Gene Summary

Name:
CTS telomere maintenance complex component 1
Synonyms:
1500010J02Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
preweaning lethality, complete penetrance Ctc1tm1b(KOMP)Wtsi HOM   Early adult 3.18×10-06
decreased prepulse inhibition Ctc1tm1b(KOMP)Wtsi HET   Early adult 6.51×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

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

10 Images

Electrocardiogram (ECG)

Waveform Image

28 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Ctc1 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 Ctc1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dyskeratosis Congenita
Premature graying of hair, Cirrhosis, Neoplasm of the pancreas, Anemia, Hepatomegaly, Nail dystro... ORPHA:1775
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Nail dysplasia, Premature graying of hair, Nail dystrophy, Anemia, Bone marrow hypocellularity, T... OMIM:612199

The table below shows human diseases predicted to be associated to Ctc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypotrichosis 1
Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S... OMIM:605389
Transcobalamin Deficiency
Pancytopenia, Abnormality of chromosome stability, Decreased circulating antibody level, Decrease... ORPHA:859
Fanconi Anemia, Complementation Group G
Anemia, Abnormality of chromosome stability, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Hypotrichosis 10
Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:614238
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Chro... OMIM:616435
N Syndrome
Abnormality of chromosome stability, Cryptorchidism, Leukemia OMIM:310465
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... ORPHA:2722
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Abnormality of chromosome stability, Decreas... ORPHA:100
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Chromosome breakage, Splenomeg... OMIM:609981
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Spar... ORPHA:189
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Abnormality of the nail, Sparse scalp hair, Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Fanconi Anemia, Complementation Group S
Anemia, Ovarian neoplasm, Long eyelashes, Chromosome breakage, Low anterior hairline, Sparse hair... OMIM:617883
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Acute myeloid leukemia, Chromo... OMIM:605724
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Fanconi Anemia, Complementation Group V
Anemia, Neutropenia, Bone marrow hypocellularity, Thrombocytopenia, Chromosomal breakage induced ... OMIM:617243
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation, Decreased circulating antibody level OMIM:613078
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Bone Marrow Failure Syndrome 3
Aplastic anemia, Nail dystrophy, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancyto... OMIM:617052
Dyskeratosis Congenita, Autosomal Recessive 8
Nail dystrophy, Pancytopenia, B lymphocytopenia, Sparse scalp hair, Bone marrow hypocellularity, ... OMIM:620133
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:609054
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Abnormality of chromosome stability,... ORPHA:99812
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Sparse body hair, Alopecia OMIM:617294
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Nail dystrophy, Onychogryposis of toenails, Abnormality of the nail, Abnormal hair morphology, Sp... ORPHA:1808
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Long eyebrows, Long eyelashes, Sparse hair... OMIM:275400
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thick eyebrow, Sparse hair, Widow's peak OMIM:606242
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Icf Syndrome
Anemia, Abnormality of chromosome stability, Decreased circulating antibody level, Lymphopenia, A... ORPHA:2268
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Scarring alopecia of scalp, Cholestasis, Sparse scalp hair, Portal hypert... ORPHA:59303
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Intermediate Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Anemia, Scarring alopecia of scalp, Sparse body hair, Anonychia ORPHA:79402
Hypotrichosis 7
Brittle hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse scalp hair, Woolly... OMIM:604379
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... ORPHA:3361
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse body hair, Abnormal toenail morphology, Sparse hair, Aplasia/... ORPHA:1818
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Nail dystrophy, Abnormal immunoglobulin level, Absent peripheral lymph nodes in presence of infec... ORPHA:98813
Bloom Syndrome
Azoospermia, Abnormality of chromosome stability, Cryptorchidism, Decreased circulating IgG level... OMIM:210900
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Long eyelashes, Sparse hair, Cryptorchidis... ORPHA:3363
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Cryptorchidism ORPHA:85274
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Deficient excision of ... OMIM:600901
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Anemia, Chromosomal breakage induced by crosslinking agents OMIM:617244
Monilethrix
Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Deficient excision of ... OMIM:227645
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... OMIM:278760
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Deficient excision of ... OMIM:227650
Angioma Serpiginosum, X-Linked
Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Ridged fingernail, Sparse hair, Fingernail dysplasia, Alopecia ORPHA:2251
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Sparse hair ORPHA:79133
Cronkhite-Canada Syndrome
Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Hepatomegaly, Anemia, Dystrophic toena... ORPHA:2930
Fanconi Anemia, Complementation Group O
Chromosome breakage, Cryptorchidism OMIM:613390
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Cryptorchidism, Sparse hair ORPHA:1174
Trichothiodystrophy
Defective DNA repair after ultraviolet radiation damage, Alopecia of scalp, Dystrophic fingernail... ORPHA:33364
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Thin nail, Absent eyelashes, Absent eyebrow, Sparse hair OMIM:618625
Fanconi Anemia, Complementation Group Q
Bone marrow hypocellularity, Chromosome breakage, Biliary atresia OMIM:615272
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Schopf-Schulz-Passarge Syndrome
Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Poroma, Apocrine hidrocystoma, S... OMIM:224750
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Crandall Syndrome
Brittle hair, Abnormal testis morphology, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fi... ORPHA:202
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Trichothiodystrophy 9, Nonphotosensitive
Nail dystrophy, Sparse eyebrow, Tiger tail banding, Sparse hair OMIM:619692
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Slow-growing hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair OMIM:129490
Xq27.3Q28 Duplication Syndrome
Decreased testicular size, Sparse body hair, Cryptorchidism ORPHA:261483
Monilethrix
Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia OMIM:158000
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Abnormal toenai... ORPHA:1433
Aredyld
Generalized hypotrichosis OMIM:207780
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology... OMIM:614931
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Absent lower eyelashes, Distichiasis, Sparse hair OMIM:227260
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... OMIM:602032
Fanconi Anemia, Complementation Group P
Chromosomal breakage induced by crosslinking agents, Cryptorchidism, Anemia, Pancytopenia OMIM:613951
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Decreased respo... OMIM:609053
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism ORPHA:908
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Defi... OMIM:227646
Fanconi Anemia, Complementation Group B
Aplastic anemia, Abnormality of chromosome stability, Thrombocytopenia OMIM:300514
Hypotrichosis 9
Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Sparse... OMIM:614237
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Thick hair, Intrahepatic biliary atresia, Cholest... OMIM:607626
Bazex-Dupré-Christol Syndrome
Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Sparse eyebrow,... ORPHA:113
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Anemia, Bone marrow hypocellularity, Throm... OMIM:603467
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair OMIM:234030
Hidrotic Ectodermal Dysplasia, Halal Type
Nail dysplasia, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Abnormal fingernail morpholo... ORPHA:1809
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Nicolaides-Baraitser Syndrome
Curly eyelashes, Highly arched eyebrow, Abnormal testis morphology, Long eyelashes, Abnormal hair... ORPHA:3051
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Sting-Associated Vasculopathy, Infantile-Onset
Nail dystrophy, Anemia, Increased circulating IgG level, Increased circulating IgA level, Periung... OMIM:615934
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Pseudoprogeria Syndrome
Absent eyelashes, Absent eyebrow, Sparse eyebrow, Sparse hair, Alopecia ORPHA:2985
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Abnormality of the nail, Curly hair, Sparse eyelashes, Sparse body... OMIM:602400
Witkop Syndrome
Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ... OMIM:189500
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Premature graying of hair, Cirrhosis, Nail dystrophy, Anemia, Ridged nail, Incre... OMIM:127550
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Trichodental Dysplasia
Slow-growing hair, Fine hair, Sparse hair, Brittle hair OMIM:601453
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:616099
Cartilage-Hair Hypoplasia
Hepatomegaly, Anemia, Abnormality of chromosome stability, Decreased circulating antibody level, ... ORPHA:175
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Panhypopituitarism, Tiger tail banding, Decreased testicular siz... OMIM:300953
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Decreased circulating antibody level, Sparse body hair, Sparse hair,... ORPHA:1006
Filippi Syndrome
Frontal hirsutism, Cryptorchidism, Hypertrichosis, Sparse hair OMIM:272440
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Brittle hair, Absent eyelashes, Absent eyebrow, Sparse body hair, Congenital onyc... ORPHA:2890
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Anterior hypopituitarism, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Chromosome breakage, Anemia, Chromosomal breakage induced by crossli... OMIM:614083
Gand Syndrome
Sparse hair OMIM:615074
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Hypotrichosis And Recurrent Skin Vesicles
Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla... OMIM:613102
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Cirrhosis, Hepatomegaly, Brittle hair, Uncombable hair, Woolly hair, Chroni... OMIM:614602
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse hair OMIM:618535
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Acute leukemia, Abnormal hair morphology, Abnormal hair quantity, Ab... ORPHA:647
Hawkinsinuria
Fine hair, Sparse hair ORPHA:2118
Hypotrichosis 12
Sparse or absent eyelashes, Abnormal sweat gland morphology, Abnormality of the nail, Slow-growin... OMIM:615885
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Long eyebrows, Low posterior hairline, Curly hair, Sparse hair,... OMIM:613224
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse body hair, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism, Sparse hair OMIM:273390
Cardiofaciocutaneous Syndrome 2
Fine hair, Absent eyebrow, Sparse hair, Curly hair OMIM:615278
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Alopecia OMIM:104100
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Distichiasis, Sparse lateral eyebrow, Abnormal hair pattern, Sparse lower ... ORPHA:1807
Schöpf-Schulz-Passarge Syndrome
Alopecia, Ovarian neoplasm, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Low posterior hairline, Azoospermia ORPHA:2183
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Sparse eye... OMIM:250250
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Anterior hypopituitarism, Sparse hair ORPHA:631
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse body hair, Sparse hair ORPHA:1810
Dermoodontodysplasia
Trichodysplasia, Toenail dysplasia, Sparse scalp hair, Sparse body hair, Fingernail dysplasia ORPHA:1660
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Fanconi Anemia, Complementation Group N
Aplastic anemia, Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents OMIM:610832
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Synophrys, Curly hair, Hyposegmentation of neutrophil nuclei, Sparse eyebrow, Sparse hair OMIM:620075
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Abnormality of the lymphatic system, Sparse scalp hair, Absent eyebrow, Hydroce... ORPHA:69735
Fg Syndrome 3
Frontal upsweep of hair, Fine hair, Cryptorchidism, Sparse hair OMIM:300406
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Small nail, Brittle hair, Abnormality of ha... OMIM:234050
Hypotrichosis 13
Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology OMIM:615896
Braddock-Carey Syndrome 1
Thrombocytopenia, Sparse hair, Curly hair OMIM:619980
2Q32Q33 Microdeletion Syndrome
Decreased testicular size, Fine hair, Sparse hair ORPHA:251019
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Absent eyebrow, Spar... OMIM:604536
Trichothiodystrophy 8, Nonphotosensitive
Woolly hair, Trichorrhexis nodosa, Sparse eyebrow, Sparse hair OMIM:619691
Anauxetic Dysplasia 2
Nail dysplasia, Sparse hair, Small nail OMIM:617396
Progeroid Syndrome, Petty Type
Brittle hair, Abnormality of the nail, Abnormal hair morphology, Generalized hirsutism, Thick eye... ORPHA:2963
Eem Syndrome
Sparse body hair, Sparse scalp hair, Absent eyebrow ORPHA:1897
Cardiofaciocutaneous Syndrome 4
Alopecia of scalp, Decreased response to growth hormone stimulation test, Absent eyebrow, Sparse ... OMIM:615280
Bazex-Dupre-Christol Syndrome
Trichorrhexis nodosa, Trichoepithelioma, Sparse hair, Pili torti, Coarse hair OMIM:301845
Intellectual Developmental Disorder, Autosomal Recessive 5
Thick eyebrow, Sparse hair, Synophrys OMIM:611091
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Abnormal hair whorl, Sparse hair ORPHA:2872
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Hirsutism, Long eyelashes, Thick eyebrow, Low anterior hairline, Sparse hair OMIM:616819
Blepharocheilodontic Syndrome 1
Nail dysplasia, High anterior hairline, Small nail, Distichiasis, Sparse hair OMIM:119580
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair OMIM:613576
Adams-Oliver Syndrome
Cirrhosis, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Absent fingernail, Portal hypert... ORPHA:974
Cranioectodermal Dysplasia
Abnormal fingernail morphology, Abnormal toenail morphology, Sparse hair ORPHA:1515
Even-Plus Syndrome
Highly arched eyebrow, Sparse hair, Synophrys OMIM:616854
Dyskeratosis Congenita
Premature graying of hair, Cirrhosis, Neoplasm of the pancreas, Anemia, Hepatomegaly, Nail dystro... ORPHA:1775
Trichohepatoenteric Syndrome 1
Trichorrhexis nodosa, Cirrhosis, Jaundice, Hepatomegaly, Brittle hair, Decreased circulating anti... OMIM:222470
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse eyebrow, Sparse hair OMIM:619989
Revesz Syndrome
Aplastic anemia, Nail dystrophy, Macrocytic anemia, Bone marrow hypocellularity, Nail pits, Ridge... OMIM:268130
Mirage Syndrome
Anemia, Decreased testicular size, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia,... OMIM:617053
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair, Neutropenia OMIM:618253
Incontinentia Pigmenti
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Ridged nail, Breast aplasia, Onychogryposis, H... OMIM:308300
Aredyld Syndrome
Sparse body hair, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Dyskeratosis Congenita, Autosomal Recessive 6
Bone marrow hypocellularity, Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Glycosylphosphatidylinositol Biosynthesis Defect 25
Coarse hair, Sparse hair OMIM:619985
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Cryptorchidism, Sparse hair OMIM:616817
Trichothiodystrophy 1, Photosensitive
Trichorrhexis nodosa, Nail dystrophy, Small nail, Brittle hair, Tiger tail banding, Trichoschisis... OMIM:601675
Rapp-Hodgkin Syndrome
Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Small nail, Slow-growing hair,... OMIM:129400
Desbuquois Syndrome
Abnormal eyelash morphology, Sparse hair ORPHA:1425
Sabinas Brittle Hair Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair OMIM:211390
Riddle Syndrome
Generalized lymphadenopathy, Chromosomal breakage induced by ionizing radiation, Decreased circul... ORPHA:420741
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, High anterior hairline, Macroorchidism, Sparse hair ORPHA:284180
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:610965
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Sparse hair, Brittle hair ORPHA:1883
Joubert Syndrome 37
Decreased testicular size, Hepatomegaly, Sparse hair, Cryptorchidism OMIM:619185
Fanconi Anemia
Anemia, Azoospermia, Abnormality of chromosome stability, Abnormal testis morphology, Thrombocyto... ORPHA:84
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Sparse lateral eyebrow, Low anterior hairline, Thin eyebrow, Sparse hair, Pili ... ORPHA:1787
Intellectual Developmental Disorder, Autosomal Dominant 65
Thin eyebrow, Synophrys, Low posterior hairline, Sparse hair OMIM:619320
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Fine hair, Low anterior hairline, Sparse hair, Synophrys ORPHA:391408
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyelashes, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Absent eyebrow, Sparse e... OMIM:614941
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow, Dystrophic toenail, Synophrys, Spa... ORPHA:3253
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Sparse axillary hair OMIM:608154
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Nail dystrophy, Sparse hair, Alopecia OMIM:242300
Lelis Syndrome
Nail dystrophy, Yellow nails, Sparse lateral eyebrow, Abnormal toenail morphology, Sparse hair, A... ORPHA:140936
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Sparse body hair, Increased circulating gonadotropin level, Cryptorchi... OMIM:300869
Hereditary Mucoepithelial Dysplasia
Fine hair, Sparse hair, Alopecia ORPHA:1839
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage, Bilateral cryptorchidism OMIM:278800
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Nail dysplasia, Premature graying of hair, Nail dystrophy, Anemia, Bone marrow hypocellularity, T... OMIM:612199
Hamamy Syndrome
Abnormal number of hair whorls, Hypoparathyroidism, Low posterior hairline, Sparse eyelashes, Spa... OMIM:611174
Noonan Syndrome 14
Low posterior hairline, Curly hair, Sparse eyebrow, Sparse hair, Lymphopenia, Cryptorchidism OMIM:619745
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
19Q13.11 Microdeletion Syndrome
Nail dysplasia, Sparse or absent eyelashes, Sparse lateral eyebrow, Sparse hair, Fine hair, Crypt... ORPHA:217346
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Hirsutism, Sparse hair OMIM:618087
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Portal hypertension, Cryptorchidism, Decreased circulating IgG level, S... OMIM:620005
Mucoepithelial Dysplasia, Hereditary
Nail dysplasia, Nail dystrophy, Chronic monilial nail infection, Sparse hair, Eosinophilia, Coars... OMIM:158310
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Onychotrichodysplasia And Neutropenia
Trichorrhexis nodosa, Hypoplastic fingernail, Curly eyelashes, Lymphocytosis, Chronic neutropenia... OMIM:258360
Tetrasomy 12P
Sparse eyebrow, Sparse hair ORPHA:884
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair OMIM:617988
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Patchy alopecia, Sparse hair OMIM:617763
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair OMIM:620001
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Aplasia of the eccrine sweat glands, Increased circulating IgA level, Abnor... OMIM:300291
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Nail dystrophy, Alopecia of scalp, Peritoneal abscess, Hypoplasia of... ORPHA:436252
Hypotrichosis 14
Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair OMIM:618275
Johnson Neuroectodermal Syndrome
Absent eyelashes, Absent eyebrow, Sparse hair, Alopecia ORPHA:2316
Bathing Suit Ichthyosis
Nail dystrophy, Sparse hair, Alopecia ORPHA:100976
Borjeson-Forssman-Lehmann Syndrome
Decreased testicular size, Cryptorchidism, Thick eyebrow, Sparse hair ORPHA:127
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Hyperconvex nail OMIM:619721
Cutis Laxa, Autosomal Recessive, Type Iiia
Cryptorchidism, Sparse hair OMIM:219150
Chromosome 5P13 Duplication Syndrome
Low posterior hairline, Sparse hair OMIM:613174
Lysinuric Protein Intolerance
Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Thrombocytopenia, Leukopenia, Splenomegaly,... OMIM:222700
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic nipples, Sparse hair, Small nail OMIM:273400
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Anemia, Hypoparathyroidism, ... ORPHA:699
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Fragile nails, Cirrhosis, Sparse hair, Alopecia OMIM:242150
Olmsted Syndrome 1
Nail dysplasia, Nail dystrophy, Sparse hair, Subungual hyperkeratosis, Alopecia universalis OMIM:614594
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair OMIM:614105
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Alopecia ORPHA:177
Monosomy 22
Hypochromic microcytic anemia, Synophrys, Hepatosplenomegaly, Sparse hair, Aplasia of the thymus ORPHA:96123
Cardiofaciocutaneous Syndrome 1
Slow-growing hair, Absent eyelashes, Low posterior hairline, Curly hair, Absent eyebrow, Splenome... OMIM:115150
Trichorhinophalangeal Syndrome, Type Iii
Sparse lateral eyebrow, Fine hair, Sparse hair OMIM:190351
Trichorhinophalangeal Syndrome Type 1
Leukonychia, Sparse eyelashes, Sparse eyebrow, Fragile nails, Sparse hair ORPHA:77258
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Sparse hair OMIM:268020
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Anemia, Sparse hair, Lymphopenia OMIM:616541
Rothmund-Thomson Syndrome
Aplastic anemia, Nail dysplasia, Anemia, Small nail, Abnormality of the nail, Sparse eyelashes, S... ORPHA:2909
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Hirsutism, Synophrys, Long eyelashes, Thick eyebrow, Thin eyebrow, Sparse ... OMIM:615485
Ifap Syndrome 2
Nail dystrophy, Atrichia, Sparse hair OMIM:619016
Chromosome 19Q13.11 Deletion Syndrome, Distal
Nail dysplasia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Cryptorchidism OMIM:613026
Agel Amyloidosis
Nail dystrophy, Abnormal spleen morphology, Sparse hair ORPHA:85448
Scarf Syndrome
Hepatocellular adenoma, Hypoplastic nipples, Low posterior hairline, Sparse hair, Cryptorchidism ORPHA:3134
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis, Sparse hair, Small nail OMIM:620601
Lamellar Ichthyosis
Abnormality of the nail, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Hepatic fibrosis, Fine hair OMIM:614091
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia totalis, Fine hair OMIM:613451
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Chromosomal breakage induc... ORPHA:2495
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Low posterior hairline, Hepatosplenomega... OMIM:613563
Olmsted Syndrome 2
Alopecia universalis, Woolly hair, Sparse hair OMIM:619208
Odontoonychodermal Dysplasia
Nail dysplasia, Dystrophic fingernails, Thin nail, Ridged nail, Dystrophic toenail, Sparse scalp ... OMIM:257980
Cerebrooculofacioskeletal Syndrome 2
Sparse hair OMIM:610756
Auriculocondylar Syndrome 2B
Sparse hair, Synophrys OMIM:620458
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Absent nipple, Sparse hair, Brittle hair OMIM:614940
Cardiofaciocutaneous Syndrome
Dystrophic fingernails, Sparse or absent eyelashes, Brittle hair, Slow-growing hair, Abnormal eye... ORPHA:1340
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased testicular size, Sparse body hair ORPHA:2234
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Absent eyelashes, Hypoplastic nipples, Absent nipple, Aplasia/Hypoplastia of the ec... OMIM:305100
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Annular pancreas, Nail dystrophy, Absent eyelashes, Sparse scalp hair,... OMIM:268400
Macs Syndrome
Sparse eyebrow, Cryptorchidism, Sparse hair, Alopecia OMIM:613075
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Sparse scalp hair, Splenomegaly, Sparse hair, Aplasia of the sweat glands OMIM:612132
Rodrigues Blindness
Fine hair, Sparse hair OMIM:268320
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Breast hypoplasia, Alopecia of scalp, Small pituitary gland, Aplasia of the ovary, Cryptorchidism... ORPHA:2232
Ruijs-Aalfs Syndrome
Premature graying of hair, Hepatocellular carcinoma, Sparse hair OMIM:616200
ERI1-related disease
Anonychia, Low anterior hairline, Sparse hair OMIM:608739
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen, Cryptorchidism OMIM:601186
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyelashes, Sparse eyebrow, Sparse hair OMIM:224900
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Nail dysplasia, Anemia, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypopla... ORPHA:221008
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal fingernail morphology, Sparse hair, Alopecia ORPHA:659
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dysplasia, Brittle hair, Progressive hypotrichosis, Sparse eyelashes, Sparse eyebrow, Pili t... OMIM:225060
Down Syndrome
Leukemia, Abnormality of the lymphatic system, Polycythemia, Neutrophilia, Thrombocytopenia, Spar... ORPHA:870
Papillon-Lefèvre Syndrome
Nail dystrophy, Liver abscess, Abnormality of the nail, Sparse body hair, Abnormal fingernail mor... ORPHA:678
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal toenail morphology, Sparse hair, Alopecia ORPHA:1005
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Sparse hair, Brittle hair OMIM:608612
Hallermann-Streiff Syndrome
Abnormality of hair texture, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Cry... ORPHA:2108
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Nail dysplasia, Anemia, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypopla... ORPHA:221016
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High anterior hairline, Highly arched eyebrow, Slow-growing hair, Low posterior hairline, Curly h... OMIM:617506
Nablus Mask-Like Facial Syndrome
Highly arched eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse eyelashes, Sparse eyebrow, L... OMIM:608156
Gapo Syndrome
Nail dysplasia, Breast hypoplasia, Hepatomegaly, Hypoplastic nipples, Sparse eyelashes, Sparse ey... OMIM:230740
Oculodentodigital Dysplasia
Brittle hair, Abnormality of the nail, Slow-growing hair, Curly hair, Abnormal fingernail morphol... ORPHA:2710
Mandibuloacral Dysplasia
Hypoplastic fingernail, Sparse hair, Alopecia ORPHA:2457
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Fine hair, Cryptorchidism, Sparse hair ORPHA:251028
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Absent hair, Nail dystrophy, Trichorrhexis nodosa, Ridged nail, Abnormality of the nail, Sparse s... ORPHA:1010
Short Syndrome
Sparse hair, Alopecia ORPHA:3163
Congenital Disorder Of Glycosylation, Type Iia
Hirsutism, Thick eyebrow, Sparse hair, Long eyelashes OMIM:212066
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Fine hair, Sparse hair ORPHA:1806
Weaver Syndrome
Thin nail, Deep-set nails, Sparse hair, Fine hair, Cryptorchidism, Hydrocele testis OMIM:277590
Scarf Syndrome
Hypoplastic nipples, Low posterior hairline, Low anterior hairline, Sparse hair, Cryptorchidism OMIM:312830
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair OMIM:302960
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Nail dystrophy, Absent eyelashes, Patchy alopecia, Sparse eyelashes, Sparse body hair, Anonychia,... OMIM:106260
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse eyelashes, Fine hair, Sparse hair OMIM:257850
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Cryptorchidism, Sparse hair OMIM:614438
Retinitis Pigmentosa With Or Without Skeletal Anomalies
High anterior hairline, Small nail, Sparse eyelashes, Sparse eyebrow, Sparse hair OMIM:250410
Cranioectodermal Dysplasia 2
Hepatomegaly, Portal fibrosis, Cholangitis, Cholestasis, Biliary cirrhosis, Bile duct proliferati... OMIM:613610
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Dystrophic fingernails, Hyperconvex fingernails, Dystrophic toenail, Sparse eyelashes, Sparse eye... ORPHA:1071
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Coarse hair, Thick hair, Sparse hair ORPHA:357074
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair, Short eyelashes, Sparse axillary hair OMIM:608615
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Brittle hair, Sparse eyebrow, Splenomegaly, Sparse hair OMIM:252500
White-Sutton Syndrome
Sparse hair OMIM:616364
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair, Cryptorchidism OMIM:234100
Marshall Syndrome
Sparse eyelashes, Sparse eyebrow, Sparse hair ORPHA:560
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair OMIM:616449
Nicolaides-Baraitser Syndrome
Sparse scalp hair, Low posterior hairline, Long eyelashes, Absent eyebrow, Low anterior hairline,... OMIM:601358
Glass Syndrome
Nail dysplasia, Sparse hair, Long eyelashes OMIM:612313
Osteogenesis Imperfecta, Type Xx
Highly arched eyebrow, Sparse lateral eyebrow, Sparse hair OMIM:618644
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Nail dysplasia, Breast hypoplasia, Small nail, Oligozoospermia, Sparse hair OMIM:614813
Cranioectodermal Dysplasia 3
Cirrhosis, Broad nail, Short nail, Sparse hair, Fine hair OMIM:614099
Intellectual Developmental Disorder, Autosomal Dominant 54
Thin nail, Sparse hair, Neutropenia OMIM:617799
Naxos Disease
Nail dystrophy, Woolly hair, Curly hair, Onycholysis, Sparse body hair, Sparse eyebrow, Subungual... OMIM:601214
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Nail dysplasia, Decreased response to growth hormone stimulation test, Absence of Stensen duct, H... OMIM:129900
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Hirsutism, Toenail dysplasia, Sparse hair, Synophrys OMIM:300966
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Sparse body hair ORPHA:3068
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Synophrys, Thick eyebrow, Sparse h... OMIM:602535
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Nail dystrophy, Small nail, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Prolonged neo... OMIM:620186
Cockayne Syndrome B
Hepatomegaly, Abnormal hair morphology, Splenomegaly, Sparse hair, Cryptorchidism, Dry hair OMIM:133540
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Sparse scalp hair, Long eyelashes, Curly hair, Sparse hair, Cryptorchidism OMIM:607721
Normosmic Congenital Hypogonadotropic Hypogonadism
Breast hypoplasia, Azoospermia, Hypoplasia of the ovary, Decreased testicular size, Sparse body h... ORPHA:432
Cockayne Syndrome A
Hepatomegaly, Thymic hormone decreased, Splenomegaly, Sparse hair, Cryptorchidism, Dry hair OMIM:216400
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Highly arched eyebrow, Hypoplastic nipples, Sparse lateral eyebrow, Acute lymphobla... OMIM:280000
Opitz-Kaveggia Syndrome
Frontal upsweep of hair, Fine hair, Cryptorchidism, Sparse hair OMIM:305450
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Absent eyelashes, Absent eyebrow, Sparse hair, Abnormal intrahepatic b... ORPHA:363618
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Sparse hair OMIM:614114
Kid Syndrome
Trichilemmoma, Nail dystrophy, Scarring alopecia of scalp, Sparse eyelashes, Sparse eyebrow, Spar... ORPHA:477
Orofaciodigital Syndrome I
Ovarian cyst, Sparse hair, Hepatic cysts, Hepatic fibrosis, Pancreatic cysts, Dry hair, Alopecia OMIM:311200
Scalp-Ear-Nipple Syndrome
Nail dysplasia, Breast aplasia, Patchy alopecia, Sparse pubic hair, Sparse axillary hair, Sparse ... OMIM:181270
Oculodentodigital Dysplasia
Slow-growing hair, Fragile nails, Sparse hair, Fine hair, Dry hair OMIM:164200
Cerebellar-Facial-Dental Syndrome
Fine hair, Cryptorchidism, Sparse eyebrow, Sparse hair ORPHA:444072
Craniolenticulosutural Dysplasia
Coarse hair, Sparse hair, Brittle hair ORPHA:50814
Teebi-Shaltout Syndrome
Highly arched eyebrow, Slow-growing hair, Low anterior hairline, Sparse hair OMIM:272950
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Thick eyebrow, Sparse hair, Synophrys OMIM:609460
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Sparse hair OMIM:615508
Craniolenticulosutural Dysplasia
Coarse hair, Cryptorchidism, Sparse hair, Brittle hair OMIM:607812
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair OMIM:615349
Orofaciodigital Syndrome Type 1
Brittle hair, Exocrine pancreatic insufficiency, Sparse hair, Pancreatic cysts, Abnormality of th... ORPHA:2750
Cranioectodermal Dysplasia 1
Hepatomegaly, Thin nail, Slow-growing hair, Short nail, Sparse hair, Hepatic cysts, Hepatic fibro... OMIM:218330
De Barsy Syndrome
Cryptorchidism, Sparse hair ORPHA:2962
Leprosy
Loss of eyelashes, Absent eyebrow, Sparse body hair, Abnormality of the spleen, Testicular mass, ... ORPHA:548
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Fine hair, Sparse hair, Brittle hair OMIM:618891
Chime Syndrome
Acute leukemia, Fine hair, Sparse hair ORPHA:3474
Kaufman Oculocerebrofacial Syndrome
Sparse eyebrow, Sparse hair OMIM:244450
Stuve-Wiedemann Syndrome 1
Sparse hair OMIM:601559
Premature Aging Syndrome, Penttinen Type
Sparse hair OMIM:601812
Ablepharon Macrostomia Syndrome
Breast hypoplasia, Absent eyelashes, Absent eyebrow, Abnormal hair pattern, Sparse hair, Fine hair ORPHA:920
Mandibuloacral Dysplasia Progeroid Syndrome
Nail dystrophy, Hepatomegaly, Macrovesicular hepatic steatosis, Sparse eyebrow, Elevated hemoglob... OMIM:619127
Roberts Syndrome
Cryptorchidism, Thrombocytopenia, Sparse hair ORPHA:3103
Tooth Agenesis, Selective, 4
Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse body hair, Short eyelashes,... OMIM:150400
Chilton-Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Anterior pituitary hypoplasia, Sparse scalp hair, Synophrys, Sparse latera... OMIM:619841
Menkes Disease
Woolly hair, Prolonged neonatal jaundice, Hypopigmentation of hair, Sparse hair ORPHA:565
Phosphoribosylpyrophosphate Synthetase Superactivity
Cryptorchidism, Sparse hair OMIM:300661
Hawkinsinuria
Sparse hair OMIM:140350
Lenz-Majewski Hyperostotic Dwarfism
Anterior pituitary hypoplasia, Cryptorchidism, Sparse hair OMIM:151050
Chondrodysplasia Punctata, Autosomal Dominant
Coarse hair, Sparse hair OMIM:118650
Atypical Werner Syndrome
Premature graying of hair, Ovarian neoplasm, Abnormal hair morphology, Abnormal hair quantity, Ab... ORPHA:79474
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Enlarged polycystic ovaries, Decreased testicular size, Sparse body hair, Sparse pubic hair, Elev... ORPHA:90796
Myhre Syndrome
Fine hair, Cryptorchidism, Thick eyebrow, Sparse hair OMIM:139210
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hypoplastic fingernail, Abnormal hair morphology, Abnormality of the nail, Hyperconvex fingernail... ORPHA:2273
Costello Syndrome
Lymphangiectasis, Thin nail, Curly hair, Deep-set nails, Fragile nails, Sparse hair, Concave nail OMIM:218040
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Sparse hair OMIM:619934
Focal Dermal Hypoplasia
Nail dysplasia, Nail dystrophy, Ridged nail, Brittle hair, Hypoplastic nipples, Absent fingernail... OMIM:305600
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Prolonged neonatal jaundice, Sparse eyebrow, Sparse hair, Fi... OMIM:210710
Woodhouse-Sakati Syndrome
Decreased testicular size, Fine hair, Sparse hair, Alopecia OMIM:241080
Scalp-Ear-Nipple Syndrome
Abnormal fingernail morphology, Sparse hair, Breast aplasia ORPHA:2036
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Loss of eyelashes, Thin eyebrow, Sparse hair, Cryptorchidism, Alopecia ORPHA:2636
Renpenning Syndrome 1
Sparse lateral eyebrow, Decreased testicular size, Sparse hair, Brittle hair OMIM:309500
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Frontal hirsutism, Pseudohypoparathyroidism, Sparse hair OMIM:617157
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Hirsutism, Sparse scalp hair, Synophrys, A... ORPHA:3455
Ablepharon-Macrostomia Syndrome
Hypoplastic fingernail, Absent eyelashes, Hypoplastic nipples, Absent eyebrow, Sparse hair OMIM:200110
Restrictive Dermopathy
Sparse or absent eyelashes, Aplasia/Hypoplastia of the eccrine sweat glands, Short nail, Sparse e... ORPHA:1662
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Nail dystrophy, Sparse hair ORPHA:158668
Trichorhinophalangeal Syndrome, Type Ii
Alopecia of scalp, Sparse scalp hair, Bilateral cryptorchidism, Fragile nails, Thick eyebrow, Spa... OMIM:150230
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Sparse hair, Recurrent pancreatitis OMIM:606721
Branchiooculofacial Syndrome
Premature graying of hair, Hypoplastic fingernail, Low posterior hairline, White forelock, Sparse... OMIM:113620
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Nail dysplasia, Cryptorchidism, Sparse hair OMIM:616682
Neurocardiofaciodigital Syndrome
Sparse eyebrow, Sparse hair OMIM:619869
Menke-Hennekam Syndrome 1
Cryptorchidism, Thick eyebrow, Sparse hair, Long eyelashes OMIM:618332
Wrinkly Skin Syndrome
Short nail, Cryptorchidism, Sparse hair, Fragile nails OMIM:278250
Roberts-Sc Phocomelia Syndrome
Biliary tract abnormality, Cryptorchidism, Sparse hair, Accessory spleen OMIM:268300
Wrinkly Skin Syndrome
Cryptorchidism, Sparse hair ORPHA:2834
Primrose Syndrome
Dystrophic fingernails, Sparse scalp hair, Bilateral cryptorchidism, Synophrys, Cryptorchidism, S... OMIM:259050
Pallister-Killian Syndrome
Sparse anterior scalp hair, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Cry... OMIM:601803

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 Ctc1

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 Ctc1.

No publications found that use IMPC mice or data for Ctc1.

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MGI Allele Allele Type Produced
Ctc1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ctc1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ctc1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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