Gene Summary

Name:
zinc finger CCCH-type containing 4
Synonyms:
Kiaa1064-hp,  Bwq1,  LOC330474

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
abnormal eye morphology Zc3h4em1(IMPC)Mbp HET Early adult 0.00
increased circulating serum albumin level Zc3h4em1(IMPC)Mbp HET Early adult 9.88×10-05
abnormal epididymis morphology Zc3h4em1(IMPC)Mbp HET Early adult 0.00
embryonic lethality prior to organogenesis Zc3h4em1(IMPC)Mbp HOM   E9.5 0.00
enlarged epididymis Zc3h4em1(IMPC)Mbp HET Early adult 0.00
abnormal coat/hair pigmentation Zc3h4em1(IMPC)Mbp HET Early adult 1.82×10-06
preweaning lethality, complete penetrance Zc3h4em1(IMPC)Mbp HOM   Early adult 0.00
increased circulating calcium level Zc3h4em1(IMPC)Mbp HET   Early adult 4.62×10-05
prenatal lethality prior to heart atrial septation Zc3h4em1(IMPC)Mbp HOM   E15.5 0.00

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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

55 Images

X-ray

XRay Images Whole Body Lateral Orientation

23 Images

Histopathology

Images

3 Images

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.

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 Similarity of
phenotypes
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 Zc3h4em1(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.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Zc3h4em1(IMPC)Mbp Exon Deletion Mice, Tissue
Zc3h4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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