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Gene: Zc3h4 MGI:2682314

Gene Summary

Name:

zinc finger CCCH-type containing 4

Synonyms:

Kiaa1064-hp, Bwq1, LOC330474

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
abnormal eye morphology	Zc3h4^em1(IMPC)Mbp	HET	Early adult	0.00
increased circulating serum albumin level	Zc3h4^em1(IMPC)Mbp	HET	Early adult	9.88×10^-05
abnormal epididymis morphology	Zc3h4^em1(IMPC)Mbp	HET	Early adult	0.00
embryonic lethality prior to organogenesis	Zc3h4^em1(IMPC)Mbp	HOM	E9.5	0.00
enlarged epididymis	Zc3h4^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal coat/hair pigmentation	Zc3h4^em1(IMPC)Mbp	HET	Early adult	1.82×10^-06
preweaning lethality, complete penetrance	Zc3h4^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating calcium level	Zc3h4^em1(IMPC)Mbp	HET	Early adult	4.62×10^-05
prenatal lethality prior to heart atrial septation	Zc3h4^em1(IMPC)Mbp	HOM	E15.5	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 Whole Body Dorso Ventral

55 Images

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X-ray

XRay Images Whole Body Lateral Orientation

23 Images

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Histopathology

Images

3 Images

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Human diseases caused by Zc3h4 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.

Human diseases associated with Zc3h4 (0 diseases)
Human diseases predicted to be associated with Zc3h4 (463 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zc3h4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Truncal obesity	OMIM:240900
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Macrosomia With Microphthalmia, Lethal	Large for gestational age	OMIM:248110
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Griscelli Syndrome, Type 1	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White...	OMIM:214450
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Childhood-onset truncal obesity, Truncal obesity	OMIM:610156
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Blue Diaper Syndrome	Hypercalcemia, Abnormal circulating tryptophan concentration	OMIM:211000
Adamantinoma	Hypercalcemia	ORPHA:55881
Hypervitaminosis A, Susceptibility To	Alopecia totalis, Hypercalcemia	OMIM:240150
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Large for gestational age	ORPHA:356996
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Loose Anagen Hair Syndrome	Loose anagen hair, Fair hair, Sparse hair	OMIM:600628
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Summitt Syndrome	Obesity	OMIM:272350
Macrosomia Adiposa Congenita	Large for gestational age, Obesity	OMIM:248100
Bardet-Biedl Syndrome 12	Obesity	OMIM:615989
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Abdominal obesity, Truncal obesity	OMIM:618160
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age	OMIM:256450
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Cryptorchidism, Hypercalcemia, Micropenis	OMIM:614732
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Tietz Syndrome	Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen...	ORPHA:42665
Diffuse Neonatal Hemangiomatosis	Abnormal vagina morphology, Hypercalcemia	ORPHA:2123
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Truncal obesity	ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age	OMIM:601820
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Hidrotic Ectodermal Dysplasia	Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa...	ORPHA:189
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Narcolepsy Type 1	Obesity	ORPHA:2073
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Body Mass Index Quantitative Trait Locus 20	Obesity, Tall stature	OMIM:618406
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia	OMIM:615361
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypospadias, Generalized hyperpigmentation, Hypopigmentation of hair	ORPHA:1355
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity	OMIM:309585
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l...	OMIM:619947
Uncombable Hair Syndrome	Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair	ORPHA:1410
Prader-Willi Habitus, Osteopenia, And Camptodactyly	Obesity	OMIM:264010
Woolly Hair	Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai...	ORPHA:170
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of the skin, Albinism, Hypopigmentation of hair	OMIM:606952
Bardet-Biedl Syndrome 10	Obesity	OMIM:615987
Oculoskeletodental Syndrome	Hypocalcemia, Low anterior hairline, Hypercalcemia, Cryptorchidism, Low posterior hairline	OMIM:618440
Familial Isolated Hyperparathyroidism	Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia	ORPHA:99879
Hypomagnesemia 1, Intestinal	Hypomagnesemia, Hypocalcemia	OMIM:602014
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:94090
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Dilution, Pigmentary	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	OMIM:126070
Carcinoma Of Esophagus	Obesity, Weight loss	ORPHA:70482
Diarrhea 7, Protein-Losing Enteropathy Type	Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia	OMIM:615863
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Griscelli Syndrome, Type 2	Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos...	OMIM:607624
2P21 Microdeletion Syndrome	Long eyelashes, Hypocalcemia, Hypogonadism	ORPHA:163693
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Oculocerebrodental Syndrome	Abnormality of the frontal hairline, Hypocalcemia, Hypercalcemia	ORPHA:557003
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ...	OMIM:619868
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Infantile Myofibromatosis	Abnormal hair morphology, Irregular hyperpigmentation, Hypercalcemia	ORPHA:2591
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Waardenburg Syndrome, Type 2B	White forelock, Premature graying of hair, Heterochromia iridis	OMIM:600193
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Pheochromocytoma--Islet Cell Tumor Syndrome	Cafe-au-lait spot, Axillary freckling, Hypercalcemia	OMIM:171420
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Microduplication Xp11.22P11.23 Syndrome	Obesity	ORPHA:217377
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age	ORPHA:2432
Bardet-Biedl Syndrome 5	Obesity	OMIM:615983
Hernández-Aguirre Negrete Syndrome	Obesity	ORPHA:2139
Analbuminemia	Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen...	OMIM:616000
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Hypophosphatasia	Hypercalcemia	ORPHA:436
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:2239
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hirsutism, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Bardet-Biedl Syndrome 19	Obesity	OMIM:615996
Alpha-Heavy Chain Disease	Hypocalcemia, Alopecia	ORPHA:100025
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Hypotrichosis 8	Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S...	OMIM:278150
Obesity Due To Melanocortin 4 Receptor Deficiency	Obesity, Childhood-onset truncal obesity	ORPHA:71529
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Central Precocious Puberty	Increased body weight, Obesity, Overgrowth	ORPHA:759
Prader-Willi Syndrome Due To Imprinting Mutation	External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Hypopig...	ORPHA:177910
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia	OMIM:246700
Hyperostosis Frontalis Interna	Obesity	OMIM:144800
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sparse hair, Alopecia, Fragile nails, Hypoalbuminemia, Decreased circulating copper concentration...	OMIM:242150
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Uremic Pruritus	Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia	ORPHA:94059
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn...	ORPHA:1916
Waardenburg Syndrome, Type 4B	Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray...	OMIM:613265
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Waardenburg Syndrome, Type 2A	Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry...	OMIM:193510
Obesity, Hyperphagia, And Developmental Delay	Obesity	OMIM:613886
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Bardet-Biedl Syndrome 22	Large for gestational age, Obesity	OMIM:617119
Hypothyroidism, Central, With Testicular Enlargement	Overweight	OMIM:300888
Hypercalcemia, Infantile, 1	Infantile hypercalcemia	OMIM:143880
Halothane Hepatitis	Obesity	OMIM:234350
Ermine Phenotype	Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair	OMIM:227010
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia	OMIM:612089
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Adiposis Dolorosa	Obesity	OMIM:103200
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia	OMIM:145980
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Albinism, Oculocutaneous, Type Ii	Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area...	OMIM:203200
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity	ORPHA:329249
Hypocalcemia, Autosomal Dominant 1	Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia	OMIM:601198
Oculocutaneous Albinism, Type Viii	Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect	OMIM:619165
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of the skin, Generalized hyperpigmentation, Hypopigmentation of hair, Premature ...	ORPHA:33445
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi...	ORPHA:895
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of the skin, Albinism, Hypopigmentation of hair	ORPHA:2786
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Hypermagnesemia	OMIM:145981
Nephrotic Syndrome, Type 14	Micropenis, Hypertriglyceridemia, Hypoalbuminemia, Hypogonadism, Cryptorchidism	OMIM:617575
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Immunodeficiency 43	Hypoalbuminemia, Hypoproteinemia	OMIM:241600
Cortisone Reductase Deficiency 1	Obesity	OMIM:604931
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia	OMIM:617156
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia	OMIM:603233
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Acute Adrenal Insufficiency	Sparse axillary hair, Increased circulating renin level, Vitiligo, Hyperpigmentation of the skin,...	ORPHA:95409
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Nail dysplasia, Hypomagnesemia, Hypokalemia, Hypocalcemia, Alopecia, Hyperpigmentation of the ski...	OMIM:175500
Addison Disease	Sparse axillary hair, Increased circulating renin level, Vitiligo, Hyperpigmentation of the skin,...	ORPHA:85138
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel...	ORPHA:2885
Elejalde Neuroectodermal Melanolysosomal Syndrome	Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos...	OMIM:256710
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Diarrhea 10, Protein-Losing Enteropathy Type	Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, Cryptorchidism	OMIM:618183
Oculocutaneous Albinism Type 3	Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,...	ORPHA:79433
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Micropenis, Hyperphosphatemia, Cryptorchidism, Hypocalcemic seizures	OMIM:241410
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Hypercalcemia, Hypermagnesemia	OMIM:600740
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White...	ORPHA:897
Fibrous Dysplasia Of Bone	Precocious puberty in females, Hypophosphatemia, Ovarian cyst, Large cafe-au-lait macules with ir...	ORPHA:249
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Hypoalbuminemia, Hypoproteinemia	OMIM:600351
Squalene Synthase Deficiency	Abnormality of hair pigmentation, Hypospadias, Increased circulating farnesol concentration, Hypo...	OMIM:618156
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei...	ORPHA:405
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Nephronophthisis 15	Obesity	OMIM:614845
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia	OMIM:156400
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypophosphatemia, Hypercalcemia	OMIM:239200
Paternal Uniparental Disomy Of Chromosome 1	Increased blood urea nitrogen, Hypercalcemia	ORPHA:251004
Refractory Celiac Disease	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia	ORPHA:398063
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Hypocalcemia, Long eyelashes	OMIM:606407
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	OMIM:616050
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Bardet-Biedl Syndrome 8	Obesity	OMIM:615985
Mastocytosis	Abnormality of skin pigmentation, Hypercalcemia	ORPHA:98292
Renal Tubular Acidosis, Distal, 1	Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia	OMIM:179800
Narcolepsy 7	Obesity	OMIM:614250
Alg6-Cdg	Decreased LDL cholesterol concentration, Hypoalbuminemia	ORPHA:79320
Late-Onset Isolated Acth Deficiency	Hyponatremia, Vitiligo, Hypercalcemia, Hyperuricemia	ORPHA:199299
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Synophrys, Hypercalcemia	ORPHA:476126
Congenital Disorder Of Glycosylation, Type Ih	Cryptorchidism, Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Hyperbilirubinemia	OMIM:609734
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity	OMIM:618725
Pheochromocytoma	Cafe-au-lait spot, Hypercalcemia	OMIM:171300
Short Stature-Obesity Syndrome	Obesity	OMIM:269870
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of hair texture, Elevated circulating creatine kinase concentration, Abnormal circula...	ORPHA:88618
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Childhood-onset truncal obesity, Obesity	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Childhood-onset truncal obesity, Obesity	ORPHA:71526
Biemond Syndrome Type 2	Obesity	ORPHA:141333
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia	OMIM:208920
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia, Micropenis, Hypospadias, Cryptorchidism, Small scrotum	OMIM:607143
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Testicular neoplasm, Hypercalcemia, Infantile hypercalcemia, Uterine leiomyoma	ORPHA:99880
Waardenburg Syndrome Type 1	Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia...	ORPHA:894
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Blue irides, Hypospadias, Cryptorchidism, Red hair	OMIM:614613
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:36913
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Generalized hirsutism, Ovarian neoplasm, Hypopigmentation of hair, F...	ORPHA:2221
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr...	OMIM:267700
Parathyroid Carcinoma	Hypophosphatemia, Testicular neoplasm, Hypercalcemia, Infantile hypercalcemia, Uterine leiomyoma	ORPHA:143
Monosomy 13Q34	Infantile hypercalcemia, Horizontal eyebrow	ORPHA:96168
Trichohepatoenteric Syndrome 1	Woolly hair, Sparse hair, Brittle hair, Generalized hypopigmentation, Hypospadias, Trichorrhexis ...	OMIM:222470
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Polycystic ovaries, Multiple cafe-au-lait sp...	ORPHA:100
Coenzyme Q10 Deficiency, Primary, 2	Obesity	OMIM:614651
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body weight, Increased body mass index	OMIM:614450
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia	OMIM:618805
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypertrichosis, Hypocalcemia, Hypoproteinemia, Micropenis, Abnormal fallopian tube morphology, Ab...	ORPHA:1655
Piebaldism	Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal...	ORPHA:2884
Nephrotic Syndrome, Type 1	Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Precocious puberty, Hypercalcemia	ORPHA:369837
Dahlberg-Borer-Newcomer Syndrome	Generalized hirsutism, Hypocalcemia, Anonychia	ORPHA:1563
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypertrichosis, Hypocalcemia, Hypoproteinemia, Micropenis, Cryptorchidism	OMIM:235255
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat...	ORPHA:79435
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Obesity	OMIM:300238
Colchicine Poisoning	Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Alopecia, Abnormal blood ion concent...	ORPHA:31824
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating...	ORPHA:247598
Waardenburg Syndrome	Abnormal vagina morphology, Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of...	ORPHA:3440
Immunodeficiency 27A	Hypoalbuminemia	OMIM:209950
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Bardet-Biedl Syndrome 2	Obesity	OMIM:615981
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ...	ORPHA:64753
Oculocutaneous Albinism	Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ...	ORPHA:55
Hepatocellular Carcinoma	Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia	ORPHA:88673
Lymphoproliferative Syndrome, X-Linked, 1	Elevated circulating C-reactive protein concentration, Hypoalbuminemia	OMIM:308240
Pseudohypoparathyroidism Type 1B	Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:94089
X-Linked Agammaglobulinemia	Hypocalcemia, Hypopigmented skin patches, Alopecia	ORPHA:47
Griscelli Syndrome Type 2	Hyperlipidemia, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation, Premature gray...	ORPHA:79477
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Multiple Endocrine Neoplasia, Type I	Cafe-au-lait spot, Hypercalcemia	OMIM:131100
Bartter Syndrome, Type 1, Antenatal	Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr...	OMIM:601678
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Abnormal circulating protein concentration	ORPHA:86839
Timothy Syndrome	Hypocalcemia	OMIM:601005
Joubert Syndrome 32	Large for gestational age, Tall stature	OMIM:617757
Mucopolysaccharidosis-Plus Syndrome	Hirsutism, Low anterior hairline, Coarse hair, Long eyelashes, Hypoalbuminemia, Synophrys, Low po...	OMIM:617303
Waardenburg Syndrome, Type 4C	Premature graying of hair, Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, Whi...	OMIM:613266
Sanjad-Sakati Syndrome	Cryptorchidism, Hypocalcemia, Hyperphosphatemia, Hypoplasia of penis	ORPHA:2323
Congenital Analbuminemia	Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia	ORPHA:86816
Obesity Due To Sim1 Deficiency	Obesity	ORPHA:369873
Citrullinemia Type Ii	Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H...	ORPHA:247585
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:89937
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra...	ORPHA:567548
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hypophosphatemia, Hypocalcemia	ORPHA:93160
Primary Intestinal Lymphangiectasia	Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia	ORPHA:90362
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight	ORPHA:276608
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Hermansky-Pudlak Syndrome 3	Hypopigmentation of the skin, Albinism, Hypopigmentation of hair	OMIM:614072
Hypophosphatemic Rickets	Multiple cafe-au-lait spots, Precocious puberty, Hypercalcemia, Hypophosphatemia	ORPHA:437
Gracile Bone Dysplasia	Hypocalcemia, Micropenis	OMIM:602361
Abdominal Obesity-Metabolic Syndrome 3	Abdominal obesity, Truncal obesity	OMIM:615812
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Autosomal Dominant Hypocalcemia	Hypomagnesemia, Hypocalcemia, Irregular hyperpigmentation, Alopecia, Abnormal fingernail morpholo...	ORPHA:428
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti...	ORPHA:158061
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia	ORPHA:99845
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased body weight	OMIM:615954
Leishmaniasis	Hypoalbuminemia	ORPHA:507
Multiple Endocrine Neoplasia Type 4	Testicular neoplasm, Hypercalcemia, Cervix cancer	ORPHA:276152
Eosinophilic Gastroenteritis	Elevated circulating C-reactive protein concentration, Hypoalbuminemia	ORPHA:2070
Bardet-Biedl Syndrome 3	Obesity	OMIM:600151
Acute Bilirubin Encephalopathy	Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia	ORPHA:529808
Oculocutaneous Albinism Type 2	Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk...	ORPHA:79432
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased body weight, Small for gestational age	OMIM:274300
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
X-Linked Intellectual Disability, Shashi Type	Obesity	ORPHA:85286
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Abnormal reproductive system morphology	ORPHA:70472
Oculocutaneous Albinism Type 1	Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,...	ORPHA:352731
Acrodysostosis With Multiple Hormone Resistance	Hypocalcemia, Fair hair, Blue irides, Hypospadias, Hyperphosphatemia, Hypogonadism, Cryptorchidis...	ORPHA:280651
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to...	OMIM:603553
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Nail dysplasia, Irregular hyperpigmentation, Abnormal circulating selenium concentration, Anonych...	ORPHA:89842
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Hypocalcemia	OMIM:244460
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures	Obesity	OMIM:618822
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:411515
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity	OMIM:601794
Alg12-Cdg	Micropenis, Hypospadias, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia, Cryptorchidism, Low ...	ORPHA:79324
Piebald Trait	Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi...	OMIM:172800
Insulin-Resistance Syndrome Type B	Hirsutism, Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentratio...	ORPHA:2298
Liver Failure, Infantile, Transient	Hyperbilirubinemia, Hypoalbuminemia	OMIM:613070
Multiple Endocrine Neoplasia Type 2	Cervical neoplasm, Hypercalcemia	ORPHA:653
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Generalized reticulate brown pigmentation, Alopecia, Hypopigmentation of the skin, Depigmentation...	ORPHA:79396
Wolcott-Rallison Syndrome	Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia	ORPHA:1667
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hyperbilirubinemia, Hypoalbuminemia	OMIM:251880
Body Mass Index Quantitative Trait Locus 19	Obesity	OMIM:617885
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypomagnesemia, Hypocalcemia, Alopecia, Decreased prealbumin level, Abnormal blood ion concentrat...	ORPHA:37042
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Obesity	ORPHA:363741
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris...	ORPHA:79434
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Hypoproteinemia	OMIM:226300
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia	OMIM:602579
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration...	ORPHA:26793
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Sim1-Related Prader-Willi-Like Syndrome	Precocious puberty, External genital hypoplasia, Micropenis, Hypopigmentation of the skin, Hypogo...	ORPHA:398079
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hirsutism, Cryptorchidism, Hypoalbuminemia	OMIM:235510
Classic Phenylketonuria	Hypopigmentation of the skin, Hypopigmentation of hair, Hyperphenylalaninemia	ORPHA:79254
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia, Hypocalce...	ORPHA:2237
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Hepatoportal Sclerosis	Hyperbilirubinemia, Hypoalbuminemia	ORPHA:64743
Ppoma	Hypercalcemia	ORPHA:97278
Proprotein Convertase 1/3 Deficiency	Obesity	OMIM:600955
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type	Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela...	OMIM:601375
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Somatostatinoma	Hypercalcemia	ORPHA:97283
Congenital Enterovirus Infection	Hypoalbuminemia, Hyperammonemia	ORPHA:292
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Micropenis	OMIM:619487
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism	OMIM:612462
Bacterial Toxic-Shock Syndrome	Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulating creatine kin...	ORPHA:36234
Williams Syndrome	Hypoplastic toenails, Precocious puberty, Hypoplasia of penis, Blue irides, Abnormal circulating ...	ORPHA:904
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Grfoma	Hypercalcemia	ORPHA:97261
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large for gestational age, Overgrowth, Small for gestational age	ORPHA:254534
Neuroleptic Malignant Syndrome	Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ...	ORPHA:94093
Cholera	Abnormal blood ion concentration, Hypokalemia, Hyponatremia, Hypocalcemia	ORPHA:173
Pseudohypoparathyroidism Type 1C	Hypocalcemia, Hypergonadotropic hypogonadism, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis,...	ORPHA:79444
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia	ORPHA:367
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hydrocele testis, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Glucagonoma	Hypercalcemia	ORPHA:97280
Hypocalcemic Vitamin D-Dependent Rickets	Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia	ORPHA:289157
Ermine Phenotype	Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy...	ORPHA:999
Leigh Syndrome With Nephrotic Syndrome	Hypoalbuminemia	ORPHA:255249
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia, Micropenis, Hypospadias, Aplasia/Hypoplasia of the nails, Crypt...	ORPHA:163979
Sarcoidosis	Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypercalcemia, Abnormal re...	ORPHA:797
Congenital Disorder Of Glycosylation, Type Ia	Hypergonadotropic hypogonadism, Hypocholesterolemia, Hypoalbuminemia	OMIM:212065
Oculocutaneous Albinism Type 1A	Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A...	ORPHA:79431
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Hyperpigmentation of the skin, Hypoalbuminemia, Abnormal circulati...	ORPHA:186
Bardet-Biedl Syndrome 6	Obesity	OMIM:605231
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism	OMIM:103580
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia	ORPHA:352540
Albinism, Oculocutaneous, Type Ia	Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White...	OMIM:203100
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia	OMIM:259700
Abcd Syndrome	Large for gestational age	OMIM:600501
Juvenile Nephropathic Cystinosis	Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine...	ORPHA:411634
Sotos Syndrome	Hydrocele testis, Hypopigmentation of the skin, Hypospadias, Phimosis, Hyperpigmentation of the s...	ORPHA:821
Williams-Beuren Syndrome	Small nail, Blue irides, Micropenis, Urethral stenosis, Hypercalcemia, Premature graying of hair,...	OMIM:194050
Abetalipoproteinemia	Abnormal circulating apolipoprotein concentration, Abnormality of retinal pigmentation, Hyperbili...	ORPHA:14
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypertrichosis, Abnormality of retinal pigmentation, Long eyelashes, Hypoalbuminemia, Thick hair	ORPHA:505248
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Pigmentary retinopathy	ORPHA:746
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Hermansky-Pudlak Syndrome 1	Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ...	OMIM:203300
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h...	ORPHA:98754
Magel2-Related Prader-Willi-Like Syndrome	Precocious puberty, External genital hypoplasia, Micropenis, Hypopigmentation of the skin, Hypopi...	ORPHA:398069
Celiac Disease, Susceptibility To, 1	Hypocalcemia, Alopecia	OMIM:212750
Multiple Endocrine Neoplasia Type 1	Large cafe-au-lait macules with irregular margins, Hypercalcemia	ORPHA:652
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypoalbuminemia	OMIM:618329
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h...	ORPHA:98793
Johanson-Blizzard Syndrome	Sparse scalp hair, Hypocalcemia, Fair hair, Micropenis, Hypospadias, Frontal upsweep of hair, Sep...	OMIM:243800
Pseudohypoparathyroidism Type 1A	Hypocalcemia, Hypergonadotropic hypogonadism, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis,...	ORPHA:79443
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h...	ORPHA:177904
Carney Complex, Type 1	Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair	OMIM:160980
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h...	ORPHA:177901
Craniofacioskeletal Syndrome	Hypospadias, Cryptorchidism, Hypocalcemia	OMIM:300712
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches	ORPHA:53271
Smith-Magenis Syndrome	Increased body weight	OMIM:182290
Renal Cysts And Diabetes Syndrome	Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Hypospadias, Elevated circulat...	OMIM:137920
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight	OMIM:300860
Al Amyloidosis	Increased circulating NT-proBNP concentration, Hypoalbuminemia	ORPHA:85443
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Elevated circulating creatine kinase concentration, Hypoalbuminemia	OMIM:619055
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair	OMIM:618541
Wilson Disease	Increased circulating copper concentration, Hyperbilirubinemia, Hypouricemia, Hypoalbuminemia, De...	OMIM:277900
Galloway-Mowat Syndrome 1	Hypopigmentation of the skin, Hypoalbuminemia, Small nail	OMIM:251300
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Prader-Willi Syndrome	Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypopigmentation o...	ORPHA:739
Wilson Disease	Increased body weight, Weight loss, Failure to thrive	ORPHA:905
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip...	ORPHA:3214
Prader-Willi Syndrome	Precocious puberty, External genital hypoplasia, Micropenis, Generalized hypopigmentation, Hypogo...	OMIM:176270
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Hypoalbuminemia, Fine hair, Nail dystrophy, ...	OMIM:614748
Velocardiofacial Syndrome	Cryptorchidism, Hypocalcemia	OMIM:192430
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia	ORPHA:67
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Obesity	OMIM:194072
Smith-Lemli-Opitz Syndrome	Elevated 7-dehydrocholesterol, Precocious puberty, Bicornuate uterus, Micropenis, Bifid scrotum, ...	OMIM:270400
Prader-Willi-Like Syndrome	Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h...	ORPHA:398073
Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Increased body weight	ORPHA:263455
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia	OMIM:127000
Cartilage-Hair Hypoplasia	Hypocalcemia, Sparse hair, Sparse eyebrow, Abnormality of retinal pigmentation	ORPHA:175
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight	OMIM:615830
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany	ORPHA:73224
Xfe Progeroid Syndrome	Hypoalbuminemia	OMIM:610965
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:98795
Koolen-De Vries Syndrome	Hypospadias, Cryptorchidism, Abnormality of hair texture, Hypopigmentation of hair	ORPHA:96169
Juvenile Polyposis Of Infancy	Freckled genitalia, Hypoalbuminemia	ORPHA:79076
Cranioectodermal Dysplasia 1	Hypocalcemia, Sparse hair, Short nail, Fine hair, Slow-growing hair, Thin nail	OMIM:218330
Abdominal Obesity-Metabolic Syndrome 4	Obesity	OMIM:618620
Pearson Syndrome	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Pigmentary retinopathy, Hyperpigment...	ORPHA:699
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypocalcemia, Unconjugated hyperbilirubinemia, Small scrotum, Hypoalbuminemia	OMIM:613658
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypocholesterolemia, Decreased prealbumin level, H...	ORPHA:90363
Liver Disease, Severe Congenital	Hydrocele testis, Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia,...	OMIM:619991
Insulinoma	Increased body weight	ORPHA:97279
Marburg Hemorrhagic Fever	Hypokalemia, Orchitis, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:99826
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia	ORPHA:31826
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Nail dystrophy, Generalized hypopigmentation of...	ORPHA:3322
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:411511
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Trichorrh...	ORPHA:238468
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Spotty hyperpigmentation, Abnormality of retinal pi...	ORPHA:167
Von Hippel-Lindau Syndrome	Papillary cystadenoma of the epididymis, Epididymal cyst	OMIM:193300
Floating-Harbor Syndrome	Hirsutism, Hypospadias, Glandular hypospadias, Varicocele, Long eyelashes, Congenital posterior u...	OMIM:136140
Vici Syndrome	Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Penile hypospadias, Albi...	OMIM:242840
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Syndromic Diarrhea	Woolly hair, Brittle hair, Generalized hypopigmentation, Hypopigmentation of hair, Trichorrhexis ...	ORPHA:84064
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Autosomal Recessive Malignant Osteopetrosis	Abnormality of hair texture, Hypophosphatemia, Hypocalcemia	ORPHA:667
Autosomal Recessive Faciodigitogenital Syndrome	Coarse hair, Hypopigmentation of hair, Dry hair, Shawl scrotum, Widow's peak	ORPHA:1974
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cryptorchidism, Hypopigmentation of hair, Ocular albinism	ORPHA:2719
22Q11.2 Deletion Syndrome	Hypocalcemia, Hypospadias, Abnormality of the uterus, Cryptorchidism, Hypopigmented skin patches	ORPHA:567
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Heterochromia iridis, Premature graying of...	ORPHA:163746
Sotos Syndrome	Increased body weight, Overgrowth, Tall stature	OMIM:117550
Chediak-Higashi Syndrome	Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Silver-gray hair, Giant ...	OMIM:214500
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:98794
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Decreased testicular size	ORPHA:93325
Cystinosis, Nephropathic	Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Retinal pigment epitheli...	OMIM:219800
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Sparse scalp hair, Hypomagnesemia, Hypocalcemia, Thick eyebrow, Hirsutism, Micropenis, Horizontal...	OMIM:619503
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:466650
Hennekam Syndrome	Hypocalcemia, Sparse axillary hair	ORPHA:2136
Gitelman Syndrome	Hypocalcemia, Hypomagnesemia, Hypokalemia, Hypermagnesemia	ORPHA:358
Infection-Related Hemolytic Uremic Syndrome	Hypocalcemia, Hyperkalemia, Hyponatremia	ORPHA:544482
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Hypocalcemia	ORPHA:2785
Degcags Syndrome	Chordee, Abnormal eyebrow morphology, Hypertrichosis, Low anterior hairline, Hyperbilirubinemia, ...	OMIM:619488
Immunodeficiency 82 With Systemic Inflammation	Anoperineal fistula, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hype...	OMIM:619381
Prader-Willi Syndrome Due To Translocation	External genital hypoplasia, Stellate iris, Hypopigmentation of the skin, Hypogonadotropic hypogo...	ORPHA:177907
Hermansky-Pudlak Syndrome	Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h...	ORPHA:79430
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Abdominal obesity, Increased body weight	ORPHA:189427
Primary Sclerosing Cholangitis	Hypoalbuminemia	ORPHA:171
Primary Pigmented Nodular Adrenocortical Disease	Abdominal obesity, Increased body weight	ORPHA:189439
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Increased body weight, Failure to thrive	ORPHA:264580
Visceral Steatosis, Congenital	Hypocalcemia	OMIM:228100
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Increased body weight	ORPHA:79240
Smith-Lemli-Opitz Syndrome	Elevated 7-dehydrocholesterol, Hypoplasia of penis, Hypospadias, Hypopigmentation of hair, Ambigu...	ORPHA:818
Von Hippel-Lindau Disease	Papillary cystadenoma of the epididymis, Epididymal cyst	ORPHA:892
Charge Syndrome	Labial hypoplasia, Hypocalcemia, External genital hypoplasia, Micropenis, Hypogonadotropic hypogo...	OMIM:214800
Floating-Harbor Syndrome	Precocious puberty, Hypospadias, Varicocele, Congenital posterior urethral valve, Cryptorchidism,...	ORPHA:2044
Digeorge Syndrome	Hydrocele testis, Hypocalcemia, Ovarian cyst	OMIM:188400
Biliary, Renal, Neurologic, And Skeletal Syndrome	Increased circulating ferritin concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, ...	OMIM:619534
Hellp Syndrome	Increased body weight	ORPHA:244242
Menkes Disease	Hypopigmentation of hair, Woolly hair, Sparse hair	ORPHA:565
Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Tropical Endomyocardial Fibrosis	Hypoalbuminemia	ORPHA:75565
Cushing Disease	Abdominal obesity, Increased body weight, Truncal obesity	ORPHA:96253
Pmm2-Cdg	Hypogonadotropic hypogonadism, Hyperplastic labia majora, Hypoalbuminemia, Decreased testicular s...	ORPHA:79318
Cushing Syndrome Due To Ectopic Acth Secretion	Abdominal obesity, Increased body weight, Weight loss, Truncal obesity	ORPHA:99889
Carney Complex	Abdominal obesity, Increased body weight, Tall stature	ORPHA:1359

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Eye - MPATH pathological entity term cataract; lens extrusion	Zc3h4^em1(IMPC)Mbp	HET		Early adult

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 Zc3h4.

No publications found that use IMPC mice or data for Zc3h4.

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MGI Allele	Allele Type	Produced
Zc3h4^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Zc3h4^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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Gene: Zc3h4 MGI:2682314

Gene Summary

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lacZ Expression

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Human diseases caused by Zc3h4 mutations

Histopathology

IMPC related publications

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Access Data Release 18.0 Data