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Gene: Hlcs MGI:894646

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Gene Summary

Name:
holocarboxylase synthetase (biotin- [propriony-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)
Synonyms:
410I21.SP6,  D16Jhu34

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
preweaning lethality, complete penetrance Hlcsem1(IMPC)J HOM   Early adult 0.00
decreased circulating calcium level Hlcsem1(IMPC)J HET Early adult 5.11×10-09
decreased circulating phosphate level Hlcsem1(IMPC)J HET Early adult 7.71×10-05
embryonic lethality prior to organogenesis Hlcsem1(IMPC)J HOM   E9.5 0.00

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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 Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Forepaw

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X-ray

XRay Images Whole Body Dorso Ventral

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Holocarboxylase Synthetase Deficiency
Hyperammonemia ORPHA:79242
Holocarboxylase Synthetase Deficiency
Hyperammonemia OMIM:253270

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Adamantinoma
Hypercalcemia ORPHA:55881
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... ORPHA:157215
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:241530
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:307800
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94089
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... OMIM:619743
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Timothy Syndrome
Hypocalcemia OMIM:601005
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79444
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Hypophosphatasia
Hypercalcemia ORPHA:436
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Dent Disease 1
Hypophosphatemia OMIM:300009
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia OMIM:617913
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79443
Opsismodysplasia
Hypophosphatemia OMIM:258480
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Pearson Syndrome
Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia ORPHA:699
Raine Syndrome
Hypophosphatemia OMIM:259775
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Cystinosis, Nephropathic
Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho... OMIM:219800
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia ORPHA:534
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Gitelman Syndrome
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia ORPHA:199299
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Pheochromocytoma
Hypercalcemia OMIM:171300
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:95409
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hypomagnesemia OMIM:619503
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Addison Disease
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:85138
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Digeorge Syndrome
Hypocalcemia OMIM:188400
Charge Syndrome
Hypocalcemia OMIM:214800
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Ppoma
Hypercalcemia ORPHA:97278
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Somatostatinoma
Hypercalcemia ORPHA:97283
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Grfoma
Hypercalcemia ORPHA:97261
Glucagonoma
Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Williams Syndrome
Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con... ORPHA:904
Sarcoidosis
Hypercalcemia ORPHA:797
Williams-Beuren Syndrome
Hypercalcemia OMIM:194050
Sotos Syndrome
Hypercalcemia ORPHA:821
Holocarboxylase Synthetase Deficiency
Hyperammonemia ORPHA:79242
Holocarboxylase Synthetase Deficiency
Hyperammonemia OMIM:253270

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 Hlcs

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 Hlcs.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Nuclear-encoded mitochondrial ribosomal proteins are required to initiate gastrulation. Development (Cambridge, England) (May 2020) Hlcsem1(IMPC)J 32376682

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MGI Allele Allele Type Produced
Hlcsem1(IMPC)J Exon Deletion Mice

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