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Gene: Chd1 MGI:88393

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Gene Summary

Name:
chromodomain helicase DNA binding protein 1
Synonyms:
4930525N21Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to tooth bud stage Chd1tm1b(KOMP)Wtsi HOM   E12.5 0.00
anophthalmia Chd1tm1b(KOMP)Wtsi HET Early adult 0.00
decreased mean corpuscular hemoglobin concentration Chd1tm1b(KOMP)Wtsi HET Early adult 2.08×10-06
abnormal embryo size Chd1tm1b(KOMP)Wtsi HET E9.5 0.00
abnormal tooth morphology Chd1tm1b(KOMP)Wtsi HET Early adult 1.58×10-05
preweaning lethality, complete penetrance Chd1tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal maxilla morphology Chd1tm1b(KOMP)Wtsi HET Early adult 1.58×10-05
embryonic lethality prior to organogenesis Chd1tm1b(KOMP)Wtsi HOM   E9.5 0.00
decreased red blood cell distribution width Chd1tm1b(KOMP)Wtsi HET   Early adult 1.07×10-05
abnormal eye morphology Chd1tm1b(KOMP)Wtsi HET E12.5 0.00
increased grip strength Chd1tm1b(KOMP)Wtsi HET Early adult 2.71×10-06

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lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 16.67% (2 of 12)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 16.67% (2 of 12)
Embryo N/A heterozygote 91.67% (11 of 12)
Eye N/A heterozygote 0.0% (0 of 12)
Footplate N/A heterozygote 0.0% (0 of 12)
Forebrain N/A heterozygote 16.67% (2 of 12)
Forelimb N/A heterozygote 16.67% (2 of 12)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 12)
Head N/A heterozygote 16.67% (2 of 12)
Heart N/A heterozygote 16.67% (2 of 12)
Hindbrain N/A heterozygote 16.67% (2 of 12)
Hindlimb N/A heterozygote 16.67% (2 of 12)
Liver N/A heterozygote 16.67% (2 of 12)
Lung N/A heterozygote 16.67% (2 of 12)
Mandibular process N/A heterozygote 16.67% (2 of 12)
Maxillary process N/A heterozygote 16.67% (2 of 12)
Midbrain N/A heterozygote 16.67% (2 of 12)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 16.67% (2 of 12)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 16.67% (2 of 12)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 16.67% (2 of 12)
Tail N/A heterozygote 16.67% (2 of 12)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Embryo LacZ

LacZ images wholemount

49 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Combined SHIRPA and Dysmorphology

Images

4 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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X-ray

XRay Images Hind Leg and Hip

2 Images

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Histopathology

Images

1 Images

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Human diseases caused by Chd1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Chd1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
ORPHA:529965
Pilarowski-Bjornsson Syndrome
OMIM:617682

The table below shows human diseases predicted to be associated to Chd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Orofacial cleft, Microphthalmia, Anophthalmia OMIM:611638
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Microphthalmia, Syndromic 12
Retrognathia, Microphthalmia, Anophthalmia, Micrognathia, Cleft palate OMIM:615524
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Anencephaly 2
Anophthalmia, Cleft maxillary alveolar ridge, Median cleft palate, Median cleft upper lip OMIM:619452
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg... OMIM:615631
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Fryns Microphthalmia Syndrome
Bilateral cleft palate, Microphthalmia, Bilateral cleft lip, Anophthalmia OMIM:600776
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, Malar flatten... ORPHA:2972
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Peg-shaped maxillary lateral incisors, Palat... ORPHA:199306
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Microphthalmia, Delayed eruption of teeth, Periodont... ORPHA:2791
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Abnormal dentin morpholog... ORPHA:49042
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... OMIM:166750
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth OMIM:615887
Hydrolethalus
Retrognathia, Gingival cleft, Microphthalmia, Anophthalmia, Micrognathia, Bifid uvula, Unilateral... ORPHA:2189
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization OMIM:614832
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Short philtrum, Anophthalmia, Everted lower lip vermilion, Abnormal spaced incisors, Thick vermil... ORPHA:411986
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Amelogenesis Imperfecta, Type If
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color OMIM:616270
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Increased mean platelet volume, Thrombocytopenia, Enamel hypomineralizati... ORPHA:494444
Cerebrooculonasal Syndrome
Widely spaced teeth, Solitary median maxillary central incisor, Anophthalmia, High palate, Microd... ORPHA:66625
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Widely spaced teeth, Mandibular prognathia, Oligodontia, Microdontia, Hy... OMIM:601216
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis... OMIM:224120
Oculocerebrocutaneous Syndrome
Microphthalmia, Cleft palate, Anophthalmia OMIM:164180
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v... OMIM:616860
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hemolytic anemia, Hepatosplenomeg... ORPHA:846
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia OMIM:104510
Cockayne Syndrome Type 2
Hypoplasia of the primary teeth, Anophthalmia, Mandibular prognathia, Enamel hypoplasia, Anodonti... ORPHA:90322
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Meckel Syndrome, Type 8
Cleft upper lip, Microphthalmia, Cleft palate, Anophthalmia OMIM:613885
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Gingival bleeding, Poikilocytosis, Anisocytosis, Abnor... ORPHA:98870
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Retrognathia, Micrognathia, Anisocytosis, Wide mouth OMIM:604273
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
Trisomy 13
High, narrow palate, Microphthalmia, Anophthalmia, Abnormality of the dentition, Cleft palate, Ma... ORPHA:3378
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits OMIM:619787
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Hypoplasia of the maxilla, Cleft palate, Microretrognathia OMIM:246560
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Maxillonasal Dysplasia
Mandibular prognathia, Open bite, Microdontia, Tooth agenesis, Hypoplasia of the maxilla, Cleft p... ORPHA:1248
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Thin vermilion border, Premature loss of teeth, Short philtrum OMIM:156510
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the tongue, Persistence of ... OMIM:618849
Anophthalmia Plus Syndrome
Non-midline cleft of the upper lip, Bilateral cleft palate, Cleft palate, Anophthalmia ORPHA:1104
Solitary Median Maxillary Central Incisor
Microphthalmia, Solitary median maxillary central incisor, Anophthalmia, Prominent median palatal... OMIM:147250
Diamond-Blackfan Anemia 6
Retrognathia, Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, ... OMIM:612561
Cockayne Syndrome Type 1
Hypoplasia of the primary teeth, Anemia, Anophthalmia, Mandibular prognathia, Abnormality of the ... ORPHA:90321
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Oslam Syndrome
Increased mean corpuscular volume, Carious teeth, Abnormality of neutrophils ORPHA:2760
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Failure Of Tooth Eruption, Primary
Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth OMIM:125350
Microphthalmia With Limb Anomalies
Retrognathia, Microphthalmia, Anophthalmia, High palate, Cleft upper lip, Cleft palate, Deep phil... OMIM:206920
Epidermolysis Bullosa, Junctional 1A, Intermediate
Enamel hypoplasia, Carious teeth, Hypodontia, Oral mucosal blisters OMIM:226650
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Abnormality o... ORPHA:231226
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Melanocytic Nevus Syndrome, Congenital
Everted lower lip vermilion, Open mouth, Long philtrum, Prominence of the premaxilla, Deep philtrum OMIM:137550
Rh Deficiency Syndrome
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... ORPHA:71275
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Aglossia, Pursed lips OMIM:241310
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath... OMIM:616367
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Smooth philtrum, Thin upper lip vermilion, Widely-spaced incisors OMIM:618737
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Mandibular prognathia, Short philtrum ORPHA:93945
Dentinogenesis Imperfecta 1
Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta OMIM:125490
Temtamy Preaxial Brachydactyly Syndrome
Abnormality of canine, Abnormally large globe, Tooth malposition, Oligodontia, Narrow mouth, Talo... ORPHA:363417
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... OMIM:301310
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Mandibular prognathia, Gingival overgrowth, Narrow mout... OMIM:614753
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Tooth malposition, Anophthalmia, Bifid uvula, Failure of eruption of permanent te... ORPHA:2250
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93950
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Aniridia, Anophthalmia, Mandibular prognathia, Hypoplasia of the maxilla, Lo... ORPHA:1101
Frontonasal Dysplasia 1
Microphthalmia, Median cleft palate, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Medi... OMIM:136760
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Hypoplasia of the primary teeth, Microphthalmia, Delayed eruption of teeth... OMIM:257850
Trisomy 1Q
Cleft palate, Narrow mouth, Microretrognathia, Anophthalmia ORPHA:261344
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Retrognathia, HbH hemoglobin, High palate, Micrognathia, Malar flattening, Microcytic anemia ORPHA:98791
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Cleft palate, Anophthalmia OMIM:610125
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, High palate, Anophthalmia ORPHA:139471
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors ORPHA:397973
Cardioacrofacial Dysplasia 1
Short philtrum, Conical tooth, Hypoplasia of the maxilla, Accessory oral frenulum, Diastema OMIM:619142
Lujan-Fryns Syndrome
Short philtrum, Dental crowding, High palate, Abnormality of the dentition, Hypoplasia of the max... ORPHA:776
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Long philtrum, Narrow mouth, Malar flattening ORPHA:261295
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Cerebrooculonasal Syndrome
Narrow palate, Solitary median maxillary central incisor, Anophthalmia, Optic nerve hypoplasia, H... OMIM:605627
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia, High palate OMIM:300676
Holoprosencephaly 9
Agenesis of incisor, Microphthalmia, Thick lower lip vermilion, Solitary median maxillary central... OMIM:610829
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Micrognathia, Microphthalmia OMIM:301108
Intellectual Developmental Disorder, Autosomal Dominant 70
Retrognathia, Optic nerve hypoplasia, Mandibular prognathia, Hypoplasia of the maxilla, Micrognat... OMIM:620157
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Supernumerary tooth, Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone ORPHA:3145
Beta-Thalassemia
Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia ORPHA:848
Matthew-Wood Syndrome
Microphthalmia, Abnormal spleen morphology, Anophthalmia ORPHA:2470
Dislocation Of The Hip-Dysmorphism Syndrome
Narrow mouth, Abnormal palate morphology, Prominence of the premaxilla, Malar flattening ORPHA:2412
Axenfeld-Rieger Syndrome
Everted lower lip vermilion, Microdontia, Hypoplasia of the maxilla, Hypodontia, Aplasia/Hypoplas... ORPHA:782
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Retrognathia, Everted lower lip vermilion, Persistence of hemoglobin F, Micrognathia, Thin upper ... OMIM:617101
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla OMIM:618302
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee... ORPHA:1946
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia, Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:899
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Mandibular prognathia, Persistence of primary teeth, Carious teeth, Hepatos... OMIM:259710
Recon Progeroid Syndrome
Thin vermilion border, Anemia, Dental crowding, Thrombocytopenia, Smooth philtrum, Delayed erupti... OMIM:620370
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Narrow mouth ORPHA:1529
Aarskog-Scott Syndrome
Orofacial cleft, Delayed eruption of teeth, Abnormality of the dentition, Everted lower lip vermi... ORPHA:915
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Long philtrum, Cleft palate ORPHA:90653
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Craniolenticulosutural Dysplasia
Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, High palate, Microdont... ORPHA:50814
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Cohen Syndrome
High, narrow palate, Short philtrum, Hypoplasia of the maxilla, Micrognathia, Leukopenia, Open mo... OMIM:216550
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit... ORPHA:1811
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Micrognathia, Hypoplastic spleen OMIM:601186
Keipert Syndrome
Hypoplasia of the maxilla, Exaggerated cupid's bow, Tented upper lip vermilion ORPHA:2662
Pycnodysostosis
Obtuse angle of mandible, High palate, Abnormality of the dentition, Persistence of primary teeth... ORPHA:763
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Abnormal palate morphology, Mandibular prognathia ORPHA:1540
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Vacterl With Hydrocephalus
Retrognathia, Micrognathia, Microphthalmia, Anophthalmia ORPHA:3412
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, High palate ORPHA:85279
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Microphthalmia OMIM:167730
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Persistence of hemoglobin F, Persistence of primary teeth OMIM:619769
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Prominent frontal sinuses, Dental crowding, Oligodontia, High palate, Pers... OMIM:170390
Hereditary Methemoglobinemia
Lip discoloration, Methemoglobinemia ORPHA:621
Dysostosis, Stanescu Type
Abnormal palate morphology, Abnormal dental enamel morphology, Abnormality of the dentition, Toot... ORPHA:1798
Holoprosencephaly
Microphthalmia, Solitary median maxillary central incisor, Anophthalmia, Median cleft palate, Too... ORPHA:2162
Rapp-Hodgkin Syndrome
Conical tooth, Narrow mouth, Microdontia, Hypoplasia of the maxilla, Carious teeth, Enamel hypopl... OMIM:129400
Bone Marrow Failure Syndrome 3
Amelogenesis imperfecta, Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... OMIM:617052
Cohen Syndrome
High, narrow palate, Microphthalmia, Short philtrum, Gingival overgrowth, Abnormality of the dent... ORPHA:193
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Abnormal palate morphology, Malar flattening ORPHA:93262
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Long philtrum, Thick vermilion border, Microretrognathia ORPHA:228396
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Rieger anomaly, Malar flattening OMIM:109120
Proboscis Lateralis
Abnormal ethmoid bone morphology, Orofacial cleft, Agenesis of canine, Abnormal facial skeleton m... ORPHA:141099
Nager Syndrome
Abnormal palate morphology, Non-midline cleft of the upper lip, Hypoplasia of the maxilla, Microg... ORPHA:245
Axenfeld-Rieger Syndrome, Type 2
Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Microdontia, Hypoplasia of th... OMIM:601499
Craniometadiaphyseal Dysplasia
Abnormally large globe, Dental crowding, Mandibular prognathia, High palate, Microdontia, Carious... OMIM:269300
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Narrow mouth, Microdontia, Hypoplasia of the maxilla, Cleft palate, Microretrognathi... ORPHA:1307
Meckel Syndrome
Microphthalmia, Accessory spleen, Anophthalmia, Aplasia/Hypoplasia of the iris, Furrowed tongue, ... ORPHA:564
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231214
Treacher-Collins Syndrome
Retrognathia, Microphthalmia, Abnormal dental enamel morphology, Open bite, Glossoptosis, Abnorma... ORPHA:861
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Micrognathia, Cleft palate, Malar flattening, Accessory oral frenulum ORPHA:79113
Microphthalmia With Limb Anomalies
Thin vermilion border, Microphthalmia, True anophthalmia, High palate, Hypoplasia of the maxilla,... ORPHA:1106
Lowry-Maclean Syndrome
Retrognathia, High, narrow palate, Talon cusp, Hypoplasia of the maxilla, Micrognathia, Cleft pal... ORPHA:2409
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Downturned corners of mouth, Micrognathia, Optic nerve aplasia, Malar flattening ORPHA:264200
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla OMIM:608154
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Micrognathia, Cleft palate, Malar flattening OMIM:108721
Orofaciodigital Syndrome Ii
High palate, Agenesis of central incisor, Hypoplasia of the maxilla, Micrognathia, Cleft palate, ... OMIM:252100
Microphthalmia, Syndromic 2
Supernumerary tooth, Microphthalmia, Radiculomegaly, Delayed eruption of teeth, Anophthalmia, Oli... OMIM:300166
Pde4D Haploinsufficiency Syndrome
Short philtrum, Abnormal dental enamel morphology, Mandibular prognathia, Hypoplasia of the maxil... ORPHA:439822
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Long philtrum, Microphthalmia, Anophthalmia OMIM:615877
Marshall Syndrome
Thick lower lip vermilion, High palate, Abnormality of the dentition, Hypoplastic frontal sinuses... ORPHA:560
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Coffin-Lowry Syndrome
Narrow palate, Advanced eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Cranio... ORPHA:192
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Elliptocytosis, Anisocyt... OMIM:618278
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Distal Xq28 Microduplication Syndrome
Thick lower lip vermilion, Dental crowding, Short lingual frenulum, High palate, Hypoplasia of th... ORPHA:293939
Fibular Hemimelia
Thrombocytopenia, Anophthalmia ORPHA:93323
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Thick lower lip vermilion, Hypochromic microcytic anemia, Reduced alpha/beta synt... OMIM:301040
Crouzon Syndrome
Hypoplasia of the maxilla, Narrow palate ORPHA:207
Andersen-Tawil Syndrome
Abnormality of dental color, Dental crowding, Oligodontia, High palate, Abnormality of the dentit... ORPHA:37553
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, High palate OMIM:218000
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Dental crowding, High palate, Hypoplasia of the maxilla, Micrognathia, Deep philt... OMIM:309520
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, High palate, Furrowed tongue, Hypoplasia of the maxilla, Micrognathia, Smo... OMIM:300534
Kagami-Ogata Syndrome
Retrognathia, Hypoplasia of the maxilla, Micrognathia, Splenomegaly, Long philtrum OMIM:608149
Microphthalmia With Linear Skin Defects Syndrome
Retrognathia, Microphthalmia, Anophthalmia, Abnormal dental enamel morphology, Mandibular aplasia... ORPHA:2556
Angelman Syndrome
Widely spaced teeth, Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mo... OMIM:105830
Joubert Syndrome 21
Splenomegaly, Chronic sinusitis, Anophthalmia OMIM:615636
Congenital Erythropoietic Porphyria
Erythrodontia, Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocy... ORPHA:79277
Frontorhiny
Microphthalmia, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Cleft palate, Bifid tongue ORPHA:391474
8Q22.1 Microdeletion Syndrome
Hypoplasia of the maxilla, Long philtrum, Submucous cleft hard palate, Abnormality of the dentition ORPHA:178303
Beta-Thalassemia Intermedia
Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatosplenomegaly, S... ORPHA:231222
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Microphthalmia, Bilateral microphthalmos ORPHA:2399
Martsolf Syndrome 1
Microphthalmia, Short philtrum, Tooth malposition, High palate, Hypoplasia of the maxilla, Microg... OMIM:212720
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thin vermilion border, High palate, Hypoplasia of the maxilla, Smooth philtrum, Long philtrum ORPHA:481152
Carpenter Syndrome 1
High palate, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Malar flatten... OMIM:201000
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Thick vermilion border, Long philtrum, Leukemia ORPHA:2526
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Micrognathia, Thick lower lip vermilion, Narrow mouth OMIM:613804
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia OMIM:206900
Acrodysostosis
Delayed eruption of teeth, Mandibular prognathia, Open bite, Hypoplasia of the maxilla, Open mouth ORPHA:950
Crouzon Syndrome
Hypoplasia of the maxilla, Dental crowding, Mandibular prognathia, High palate OMIM:123500
Dyskeratosis Congenita
Anemia, Periodontitis, Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Th... ORPHA:1775
Van Maldergem Syndrome 1
High palate, Irregular dentition, Hypoplasia of the maxilla, Micrognathia, Downturned corners of ... OMIM:601390
Barber-Say Syndrome
Thin vermilion border, Widely spaced teeth, Delayed eruption of teeth, Mandibular prognathia, Gin... OMIM:209885
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Cleft palate OMIM:614261
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Clef... ORPHA:124
Pfeiffer Syndrome
Hypoplasia of the maxilla, Dental crowding, Mandibular prognathia, High palate OMIM:101600
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Delayed eruption of teeth, Anophthalmia, Oligodontia, Enamel hypoplasia... OMIM:305600
Elsahy-Waters Syndrome
Supernumerary tooth, Agenesis of incisor, Thick lower lip vermilion, Delayed eruption of teeth, M... OMIM:211380
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Cleft upper lip, Cleft palate, Curved linear dimple below the lower li... OMIM:305400
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Micrognathia, Hypoplasia of the premaxilla ORPHA:2975
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormality of the spleen, Anophthalmia ORPHA:2538
Cowden Syndrome 5
Narrow mouth, High palate, Furrowed tongue, Hypoplasia of the maxilla, Micrognathia OMIM:615108
Charge Syndrome
Microphthalmia, Abnormal soft palate morphology, Delayed eruption of teeth, Anophthalmia, Narrow ... ORPHA:138
Fraser Syndrome 1
Bilateral microphthalmos, Anophthalmia, Dental crowding, Cleft upper lip, Cleft palate, Dental ma... OMIM:219000
Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Tooth agenesis, Sinusitis, Abnormal dental morphology, Hypoplasia o... ORPHA:238468
Premature Aging Syndrome, Penttinen Type
Retrognathia, Thin vermilion border, Microphthalmia, Delayed eruption of teeth, Narrow philtrum, ... OMIM:601812
Cowden Syndrome 1
Narrow mouth, High palate, Furrowed tongue, Hypoplasia of the maxilla, Micrognathia, Lymphopenia OMIM:158350
Axenfeld-Rieger Syndrome, Type 1
Aniridia, Short philtrum, Oligodontia, Microdontia, Hypoplasia of the iris, Hypoplasia of the max... OMIM:180500
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Thick lower lip vermilion, Anemia, Abnormality of the dentition, Everted lower lip vermilion, Ten... ORPHA:847
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla, Oligodontia, Abnormality of the dentition ORPHA:2095
Geroderma Osteodysplasticum
Periodontitis, Mandibular prognathia, Abnormality of the dentition, Hypoplasia of the maxilla, Ma... OMIM:231070
Cowden Syndrome 6
Narrow mouth, High palate, Furrowed tongue, Hypoplasia of the maxilla, Micrognathia OMIM:615109
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Micrognathia, Thick vermilion border, Long philtrum, Submucous cleft h... OMIM:613805
Van Maldergem Syndrome 2
High palate, Irregular dentition, Hypoplasia of the maxilla, Micrognathia, Downturned corners of ... OMIM:615546
Myhre Syndrome
Thin vermilion border, Gingival cleft, Craniofacial hyperostosis, Mandibular prognathia, Narrow m... ORPHA:2588
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla OMIM:614886
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Widely spaced teeth, Conical tooth, Selective tooth agenesis, Hypoplasia of the maxilla, Cleft up... OMIM:106260
Diamond-Blackfan Anemia 1
Retrognathia, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean c... OMIM:105650
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Delayed eruption of teeth ORPHA:330015
Fraser Syndrome
Orofacial cleft, Microphthalmia, Anophthalmia, Dental crowding, High palate, Cleft upper lip, Den... ORPHA:2052
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Branchioskeletogenital Syndrome
Thin vermilion border, Short philtrum, Rootless teeth, Mandibular prognathia, Abnormal dentin mor... ORPHA:1299
Apert Syndrome
Narrow palate, Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Bifid... ORPHA:87
Microphthalmia, Syndromic 6
Retrognathia, Microphthalmia, Anophthalmia, High palate, Micrognathia, Bifid uvula, Cleft palate,... OMIM:607932
Nablus Mask-Like Facial Syndrome
Retrognathia, High palate, Abnormality of the dentition, Everted lower lip vermilion, Narrow mout... OMIM:608156
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Weill-Marchesani Syndrome 1
Narrow palate, Tooth malposition, Microspherophakia, Hypoplasia of the maxilla, Abnormal dental m... OMIM:277600
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Hypodontia, Dental m... OMIM:101800
Enamel-Renal Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... ORPHA:1031
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Optic nerve hypoplasia, Optic disc hypoplasia, Hypoplasia of the anter... ORPHA:79345
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Short philtrum, Optic nerve hypoplasia, Gingival overgrowth,... OMIM:602535
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Conical tooth, Everted lower lip vermilion, Microdontia, Hypoplasia ... OMIM:305100
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Long philtrum, Wide mouth ORPHA:251061
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:3044
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia, Abnormality of the dentition, Cleft of chin, Cleft upper lip, Micro... OMIM:113620
3Mc Syndrome 2
High palate, Cleft upper lip, Downturned corners of mouth, Cleft palate, Broad philtrum, Prominen... OMIM:265050
Charge Syndrome
Microphthalmia, Anophthalmia, Unilateral microphthalmos, Cleft upper lip, Micrognathia, Cleft pal... OMIM:214800
Cerebrofacioarticular Syndrome
Hypoplasia of the maxilla, Micrognathia, Narrow mouth, Irregular dentition ORPHA:314679
Craniofacial Microsomia 1
Microphthalmia, Transverse facial cleft, Anophthalmia, Maxillozygomatic hypoplasia, Hypoplasia of... OMIM:164210
Shprintzen-Goldberg Craniosynostosis Syndrome
Narrow palate, High palate, Hypoplasia of the maxilla, Micrognathia, Dental malocclusion OMIM:182212
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Ear-Patella-Short Stature Syndrome
Retrognathia, High, narrow palate, Narrow mouth, Mandibular aplasia, Hypoplasia of the maxilla, M... ORPHA:2554
Goldberg-Shprintzen Syndrome
Short philtrum, Oligodontia, Everted lower lip vermilion, Hypoplasia of the maxilla, Thick vermil... OMIM:609460
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Van Den Ende-Gupta Syndrome
High, narrow palate, Dental crowding, High palate, Everted lower lip vermilion, Narrow mouth, Hyp... OMIM:600920
Distal Deletion 19P
Hypoplasia of the maxilla, Cleft palate, Short philtrum ORPHA:96129
Aicardi Syndrome
Microphthalmia, Short philtrum, Cleft upper lip, Cleft palate, Prominence of the premaxilla ORPHA:50
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Micrognathia, Gingival overgrowth, Delayed eruption of teeth OMIM:259600
Osteoglophonic Dysplasia
Delayed eruption of teeth, Eruption failure, Mandibular prognathia, High palate, Hypoplasia of th... OMIM:166250
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Cleft palate, Aplasia/... ORPHA:306542
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Open bite, Cleft palate, Narrow palate ORPHA:794
Meier-Gorlin Syndrome 3
Narrow mouth, Hypoplasia of the maxilla, Micrognathia, Thick vermilion border, Microretrognathia OMIM:613803
Stickler Syndrome
Advanced eruption of teeth, Short hard palate, Abnormal dental enamel morphology, Open bite, Glos... ORPHA:828
Weill-Marchesani Syndrome 2
Narrow palate, Tooth malposition, Microspherophakia, High palate, Hypoplasia of the maxilla, Abno... OMIM:608328
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Microdontia of primary teeth, Gingival overgrowth, High palate, Hypoplasia of the maxilla, Cleft ... OMIM:213980
Myhre Syndrome
Microphthalmia, Short philtrum, Mandibular prognathia, Narrow mouth, Hypoplasia of the maxilla, C... OMIM:139210
Shprintzen-Goldberg Syndrome
Hypoplasia of the maxilla, Retrognathia, Micrognathia, High, narrow palate ORPHA:2462
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Prolonged G2 phase of cell cycle OMIM:227645
Microphthalmia, Syndromic 1
Orofacial cleft, High, narrow palate, Microphthalmia, Tooth malposition, Anophthalmia, Dental cro... OMIM:309800
Rubinstein-Taybi Syndrome 1
Narrow palate, Retrognathia, High, narrow palate, Accessory spleen, Dental crowding, Narrow mouth... OMIM:180849
Aicardi Syndrome
Cleft upper lip, Microphthalmia, Cleft palate, Prominence of the premaxilla OMIM:304050
Meier-Gorlin Syndrome 1
High palate, Narrow mouth, Microdontia, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Th... OMIM:224690
Bartsocas-Papas Syndrome 1
Microphthalmia, Oral synechia, Hypoplasia of the maxilla, Cleft upper lip, Micrognathia, Cleft pa... OMIM:263650
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle, Patent ductus arteriosus OMIM:227646
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Craniosynostosis And Dental Anomalies
Narrow palate, Supernumerary tooth, Delayed eruption of teeth, Dental crowding, Mandibular progna... OMIM:614188
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Oligodontia, Selective tooth agenesis, Microdontia, Hypoplasia of the ma... OMIM:129900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Selective tooth agenesis, Microdontia, Hypoplasia of the maxilla, Cariou... OMIM:604292
Greenberg Dysplasia
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Hepatosplenomegaly OMIM:215140
Zttk Syndrome
Thin vermilion border, Short philtrum, High palate, Abnormality of the dentition, Narrow mouth, H... OMIM:617140
Ablepharon Macrostomia Syndrome
Thin vermilion border, Microdontia, Hypoplasia of the maxilla, Wide mouth, Hypoplasia of the zygo... ORPHA:920
Cutis Laxa, Autosomal Recessive, Type Iic
Dental crowding, Mandibular prognathia, High palate, Narrow mouth, Median cleft palate, Hypoplasi... OMIM:617402
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Retrognathia, Short philtrum, Mandibular prognathia, Narrow mouth, Hypoplasia of the maxilla, Mic... ORPHA:96334
Saethre-Chotzen Syndrome
Narrow palate, Hypoplasia of the maxilla, Cleft of chin, Cleft palate, Malar flattening, Buphthalmos OMIM:101400
Holoprosencephaly 2
Microphthalmia, Solitary median maxillary central incisor, Bilateral cleft palate, Median cleft p... OMIM:157170
Cutis Laxa, Autosomal Recessive, Type Ib
Retrognathia, Micrognathia, High palate, Prominence of the premaxilla OMIM:614437
Floating-Harbor Syndrome
Short philtrum, Oligodontia, Microdontia, Persistence of primary teeth, Hypoplasia of the maxilla... ORPHA:2044
Peters-Plus Syndrome
Thin vermilion border, Widely spaced teeth, Conical incisor, Short lingual frenulum, Exaggerated ... OMIM:261540
Singleton-Merten Syndrome 1
Hypoplasia of the tooth germ, Eruption failure, Short dental root, Hypoplasia of the maxilla, Car... OMIM:182250
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Thin vermilion border, Short philtrum, Optic nerve hypoplasia, Hypoplasia of the maxilla, Downtur... ORPHA:500150
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Aplastic zygomatic arch, High palate, Hypoplasia of the maxilla, Micrognathia, Clef... OMIM:616462
Alkaptonuria
Hemolytic anemia, Methemoglobinemia ORPHA:56
Primrose Syndrome
Thick lower lip vermilion, Increased size of the mandible, Narrow mouth, High palate, Hypoplasia ... OMIM:259050
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla OMIM:300106
Pilarowski-Bjornsson Syndrome
OMIM:617682
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
ORPHA:529965

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Chd1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Chd1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Chromatin Regulator CHD1 Remodels the Immunosuppressive Tumor Microenvironment in PTEN-Deficient Prostate Cancer. Cancer discovery (May 2020) Chd1tm1c(KOMP)Wtsi Chd1tm1a(KOMP)Wtsi 32385075
Organ-specific regulation of CHD1 by acute PTEN and p53 loss in mice. Biochemical and biophysical research communications (February 2020) Chd1tm1a(KOMP)Wtsi 32115152
Emergence of hematopoietic stem and progenitor cells involves a Chd1-dependent increase in total nascent transcription. Proceedings of the National Academy of Sciences of the United States of America (March 2015) Chd1tm1b(KOMP)Rsan PMC4394284
Chd1 is essential for the high transcriptional output and rapid growth of the mouse epiblast. Development (Cambridge, England) (December 2014) Chd1tm1c(KOMP)Rsan Chd1tm1b(KOMP)Rsan PMC4299150

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MGI Allele Allele Type Produced
Chd1em1(IMPC)Wtsi Point Mutation Mice
Chd1em2(IMPC)Wtsi Point Mutation Mice
Chd1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Chd1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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