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 coat/hair pigmentation Zc3h4em1(IMPC)Mbp HET Early adult 1.96×10-06
embryonic lethality prior to organogenesis Zc3h4em1(IMPC)Mbp HOM   E9.5 0.00
prenatal lethality prior to heart atrial septation Zc3h4em1(IMPC)Mbp HOM   E15.5 0.00
hyperactivity Zc3h4em1(IMPC)Mbp HET Early adult 1.64×10-05
increased circulating serum albumin level Zc3h4em1(IMPC)Mbp HET   Early adult 9.00×10-05
enlarged epididymis Zc3h4em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Zc3h4em1(IMPC)Mbp HOM   Early adult 0.00
abnormal epididymis morphology Zc3h4em1(IMPC)Mbp HET Early adult 0.00
abnormal eye morphology Zc3h4em1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

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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.

Histopathology

Images

123 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
Obesity, Increased waist to hip ratio OMIM:601665
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age 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
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Cryptorchidism OMIM:617796
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
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Summitt Syndrome
Obesity OMIM:272350
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Macrosomia Adiposa Congenita
Obesity, Large for gestational age OMIM:248100
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Immunodeficiency 8
Hyperactivity OMIM:615401
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Narcolepsy Type 1
Obesity ORPHA:2073
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... ORPHA:189
Alazami-Yuan Syndrome
Highly arched eyebrow, Hirsutism, Low anterior hairline, Long eyelashes, Hyperactivity, Thick eye... OMIM:617126
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Steppage gait, Ataxia, Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Cafe-au-lait spot ORPHA:436151
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias, Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Steppage gait, Ataxia, Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:607624
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Abnormal hair morphology, Long penis, Attention deficit hyperactivi... ORPHA:3000
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism DECIPHER:39
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of the skin, Ataxia, Hypopigmentation of hair, Pr... ORPHA:33445
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Abcd Syndrome
Large for gestational age OMIM:600501
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Ataxia, Irregular ... ORPHA:2885
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Hirsutism ORPHA:85288
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia, Gait ataxia OMIM:208920
Immunodeficiency 61
Obesity OMIM:300310
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Hyperostosis Frontalis Interna
Obesity OMIM:144800
Elejalde Disease
Silver-gray hair, Hypopigmentation of the skin, Ataxia, Accumulation of melanosomes in melanocyte... OMIM:256710
Central Precocious Puberty
Obesity, Overgrowth, Increased body weight ORPHA:759
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Autism, Susceptibility To, 18
Overweight, Tall stature OMIM:615032
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Morm Syndrome
Hyperactivity, Micropenis ORPHA:75858
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Phenylketonuria
Blue irides, Maternal hyperphenylalaninemia, Hyperphenylalaninemia, Hyperactivity, Attention defi... OMIM:261600
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Hypopigmentation of the skin, Iris hy... ORPHA:177910
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Nephrotic Syndrome, Type 14
Hypogonadism, Ataxia, Micropenis, Hypertriglyceridemia, Hypoalbuminemia, Cryptorchidism OMIM:617575
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Halothane Hepatitis
Obesity OMIM:234350
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Adiposis Dolorosa
Obesity OMIM:103200
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:613265
Griscelli Syndrome Type 1
Partial albinism, Hyperlipidemia, White hair, Ataxia, Iris hypopigmentation, Premature graying of... ORPHA:79476
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Hypertriglyceridemia OMIM:615924
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Hyperactivity, Ataxia, Iris hypopigmentation, Broad-based gait, Hyp... ORPHA:411515
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Blue irides, Hyperactivity, Cryptorchidism, Fair hair, Red hair OMIM:614613
Coffin-Siris Syndrome 8
Thick eyebrow, Hyperactivity, Long eyelashes, Sparse scalp hair OMIM:618362
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, Ataxia, White for... OMIM:277580
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Ataxia OMIM:239500
Waardenburg Syndrome, Type 2A
Partial albinism, Albinism, White eyelashes, Heterochromia iridis, White forelock, White eyebrow,... OMIM:193510
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Waardenburg Syndrome Type 2
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... ORPHA:895
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Albinism, Oculocutaneous, Type Ii
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... OMIM:203200
Ermine Phenotype
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow OMIM:227010
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia OMIM:246700
Chromosome Xq25 Duplication Syndrome
Thick eyebrow, Hyperactivity, Sparse eyebrow, Highly arched eyebrow OMIM:300979
Ataxia-Telangiectasia
Gait disturbance, Polycystic ovaries, Ataxia, Abnormal testis morphology, Multiple cafe-au-lait s... ORPHA:100
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Dystonia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholesterolemi... ORPHA:64753
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 104
Frontal upsweep of hair, Hyperactivity, Ataxia OMIM:300983
Glycine Encephalopathy
Hyperactivity, Hyperglycinemia, Lethargy OMIM:605899
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Alg6-Cdg
Decreased LDL cholesterol concentration, Ataxia, Hypoalbuminemia ORPHA:79320
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Hypoalbuminemia OMIM:608104
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Hirsutism OMIM:300434
Piebaldism
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, Ataxia, White fore... ORPHA:2884
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Nephronophthisis 15
Obesity OMIM:614845
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Hypoalbuminemia OMIM:618805
Xq25 Microduplication Syndrome
Hyperactivity, Sparse eyebrow, Highly arched eyebrow ORPHA:521258
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Oculocutaneous Albinism Type 3
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... ORPHA:79433
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... ORPHA:897
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, H... ORPHA:247585
Narcolepsy 7
Obesity OMIM:614250
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Micropenis, Cryptorchidism OMIM:618504
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Cryptorchidism, Synophrys OMIM:615824
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Squalene Synthase Deficiency
Hypospadias, Hypocholesterolemia, Increased circulating farnesol concentration, Bilateral cryptor... OMIM:618156
Mental Retardation, Autosomal Recessive 61
Highly arched eyebrow, Long eyelashes, Hyperactivity, Thick eyebrow, Synophrys OMIM:617773
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation, Hyperactivity, Precocious puberty, Broad-based gait ORPHA:457260
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Synophrys OMIM:615541
Biemond Syndrome Type 2
Obesity ORPHA:141333
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal reproductive system morphology, Ataxia, Inability to walk, Generalized dystonia, Hypopig... ORPHA:70472
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Small nail, Broad-based gait OMIM:619470
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Obesity, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Obesity, Childhood-onset truncal obesity ORPHA:71526
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Macroorchidism, Synophrys OMIM:300143
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ... ORPHA:894
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Hyperactivity, Ataxia, Generalized hirsutism, Cryptorchidism, Hypoplasia o... ORPHA:228402
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Piebald Trait With Neurologic Defects
White forelock, Ataxia, Absent pigmentation of the ventral chest OMIM:172850
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Acquired Hypertrichosis Lanuginosa
Fine hair, Ovarian neoplasm, Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation... ORPHA:2221
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... ORPHA:88618
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Gand Syndrome
Hyperactivity, Sparse hair OMIM:615074
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Mucopolysaccharidosis-Plus Syndrome
Hirsutism, Low anterior hairline, Coarse hair, Long eyelashes, Inability to walk, Hypoalbuminemia... OMIM:617303
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Attention deficit hyperactivity disorder, Cryptorchidism, Highly arched eyebrow ORPHA:352490
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia, Transient hyperphenylalaninemia OMIM:612716
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Highly arched eyebrow OMIM:618342
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Red hair OMIM:609734
Classic Phenylketonuria
Attention deficit hyperactivity disorder, Hypopigmentation of hair, Hypopigmentation of the skin,... ORPHA:79254
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Fragile X Syndrome
Hyperactivity, Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Trichohepatoenteric Syndrome 1
Increased serum iron, Hypospadias, Abnormality of iron homeostasis, Fine hair, Brittle hair, Tric... OMIM:222470
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... ORPHA:79435
Rubinstein-Taybi Syndrome 2
Hyperactivity, Long eyelashes, Hirsutism OMIM:613684
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Macroorchidism, Broad-based gait ORPHA:3077
Bardet-Biedl Syndrome 2
Obesity OMIM:615981
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Bardet-Biedl Syndrome 21
Obesity, Overweight OMIM:617406
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Joubert Syndrome 32
Large for gestational age, Tall stature OMIM:617757
Obesity Due To Sim1 Deficiency
Obesity ORPHA:369873
Waardenburg Syndrome
Hypopigmented skin patches, Abnormal vagina morphology, Abnormality of skin pigmentation, Abnorma... ORPHA:3440
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Oculocutaneous Albinism
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... ORPHA:55
Coffin-Siris Syndrome 7
Thick eyebrow, Hyperactivity, Hypoplastic fifth toenail, Sparse scalp hair OMIM:618027
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity OMIM:615812
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Hypertriglyceridemia, Generalized hirsutism, Gait ataxia, Limb dystonia ORPHA:363400
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Hypogonadism, Hyperactivity, Micropenis, Cryptorchidism, Gait ataxia, Decreased test... OMIM:300354
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Varicocele, Hyperactivity, Micropenis, Cr... ORPHA:8
Inverted Duplicated Chromosome 15 Syndrome
Hypogonadism, Hyperactivity, Cryptorchidism, Precocious puberty, Gonadal dysgenesis, Synophrys ORPHA:3306
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia, Cryptorchidism OMIM:618183
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low anterior hairline, Neonatal hyperbilirubinemia, Hypogonadism, Hyperactivity, Low posterior ha... ORPHA:73272
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Cryptorchidism OMIM:614294
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Cryptorchidism, Hirsutism, Hypoalbuminemia OMIM:235510
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Blue irides, White eyelashes, Hypogonadism, Heterochromia iridis, Whi... OMIM:613266
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Ataxia, Increased circulating ferritin ... OMIM:603553
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Griscelli Syndrome Type 2
Partial albinism, Hyperlipidemia, Iris hypopigmentation, Hypopigmentation of hair, Premature gray... ORPHA:79477
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Thick eyebrow, Broad-based gait OMIM:617865
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity OMIM:610628
Sim1-Related Prader-Willi-Like Syndrome
Hypoplastic labia minora, Premature pubarche, Hypogonadotropic hypogonadism, External genital hyp... ORPHA:398079
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... ORPHA:79432
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Synophrys OMIM:613192
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Ataxia, Premature ovarian insufficiency, Hypergonadotropic ... OMIM:212065
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity OMIM:618822
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Leishmaniasis
Hypoalbuminemia ORPHA:507
Chromosome 10Q26 Deletion Syndrome
Small nail, Hyperactivity, Micropenis, Broad-based gait, Low posterior hairline, Cryptorchidism OMIM:609625
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Abetalipoproteinemia
Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Dysmetria, Steppage... ORPHA:14
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... ORPHA:352731
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypospadias, Gait disturbance, Hypopigmented skin patches, Hyperactivity, Curly hair, Cryptorchid... ORPHA:457485
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Hyperactivity, Cryptorchidism, Unsteady gait ORPHA:485350
Wolcott-Rallison Syndrome
Hyponatremia, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Difficulty walking ORPHA:1667
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Aicardi-Goutieres Syndrome 9
Dystonia, Micropenis, Hypoalbuminemia OMIM:619487
Insulin-Resistance Syndrome Type B
Hirsutism, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentratio... ORPHA:2298
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Elevated circulating gamma-aminobutyric acid concentration, Ataxia OMIM:271980
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Generalized reticulate brown pigmentation, Depigmentation/hyperpigmentation of skin, Hyperpigment... ORPHA:79396
Blue Diaper Syndrome
Increased body weight ORPHA:94086
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Macroorchidism ORPHA:85327
Alg12-Cdg
Hypospadias, Hyponatremia, Small nail, Hypocholesterolemia, Micropenis, Hypoalbuminemia, Low post... ORPHA:79324
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Blue irides OMIM:615516
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Precocious puberty, Broad-based gait OMIM:300958
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Mend Syndrome
Hyperactivity, Cryptorchidism OMIM:300960
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Coarse hair, Hirsutism, Synophrys OMIM:252900
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation of the skin, Melanocyt... ORPHA:79434
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Absent toenail, Decreased serum iron, Abnormal circulating selenium concent... ORPHA:89842
Myopathy With Extrapyramidal Signs
Dystonia, Elevated circulating creatine kinase concentration, Hypervalinemia, Extremely elevated ... OMIM:615673
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Hypopigmentation of the skin, Iris hypopigmentation, Broad-based gait, Hypopigmen... ORPHA:98795
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Hypopigmentation of the skin, Ataxia, Hyperactivity, Iris hypopigmentation, Broad... ORPHA:98794
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Overgrowth, Small for gestational age, Large for gestational age ORPHA:254534
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Hypopigmentation of the skin, Ataxia, Iris hypopigmentation, Broad-based gait, Hy... ORPHA:411511
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Gait disturbance, Freckling, Hyperpigmentation of the skin, Iris hypo... ORPHA:3214
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Leptin Receptor Deficiency
Obesity OMIM:614963
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Prader-Willi Syndrome
Hypoplastic labia minora, Hypogonadotropic hypogonadism, External genital hypoplasia, Hypopigment... OMIM:176270
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Macrocephaly/Autism Syndrome
Obesity OMIM:605309
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Myoclonic-Astatic Epilepsy
Frontal balding, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder ORPHA:1942
19P13.12 Microdeletion Syndrome
Hypospadias, Hyperlipidemia, Hyperactivity, Generalized hirsutism, Cryptorchidism, Precocious pub... ORPHA:254346
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Hypertrichosis, Long eyelashes, Inability to walk, Thick hai... ORPHA:505248
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low anterior hairline, Horizontal eyebrow, Hyperactivity, Ataxia, Cryptorchidism, Frontal upsweep... ORPHA:369891
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... OMIM:601375
Magel2-Related Prader-Willi-Like Syndrome
Hypoplastic labia minora, Lethargy, Small scrotum, External genital hypoplasia, Hypopigmentation ... ORPHA:398069
Galloway-Mowat Syndrome 1
Dystonia, Small nail, Hypopigmentation of the skin, Ataxia, Hypoalbuminemia OMIM:251300
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Premature ovarian insufficiency, Synophrys ORPHA:391307
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Coarse hair, Hirsutism, Synophrys OMIM:252920
Ermine Phenotype
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... ORPHA:999
Prader-Willi Syndrome
Hypoplastic labia minora, Hypoplastic labia majora, Small scrotum, External genital hypoplasia, H... ORPHA:739
Graves Disease, Susceptibility To, 1
Hyperactivity, Onycholysis OMIM:275000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Nail dystrophy, Alopecia, Hypocalcemia, Hypomagnesemia, Hypoalbuminem... ORPHA:37042
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hypoplastic nipples, Hyperactivity, Cryptorchidism, Hypermelanotic macule, Cafe-au-lait spot OMIM:618505
Cri-Du-Chat Syndrome
Hypospadias, Hyperactivity, Cryptorchidism, Difficulty walking, Premature graying of hair OMIM:123450
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Patchy alopecia, Shuffling gait, Hyperactivity, Micropenis, Thick eyebrow, Cryptorchidism, Decrea... OMIM:300534
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hyperactivity, Hypokalemia OMIM:618314
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Micropenis, Cryptorchidism, Gait ataxia, Microphallus OMIM:300486
Oculocutaneous Albinism Type 1A
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... ORPHA:79431
Floating-Harbor Syndrome
Hypospadias, Hirsutism, Congenital posterior urethral valve, Low posterior hairline, Long eyelash... OMIM:136140
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Hyperpigmentation of the skin, Conjugated hyperbilirubi... ORPHA:186
Albinism, Oculocutaneous, Type Ia
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of... OMIM:203100
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Abnormal circulating creatine concentration, Hyperactivity, Ataxia ORPHA:52503
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Obesity ORPHA:34527
Carney Complex, Type 1
Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair OMIM:160980
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Obesity OMIM:600122
X-Linked Intellectual Disability, Cabezas Type
Abnormal hair pattern, Hypogonadism, Hyperactivity, Broad-based gait, Hypoplasia of penis, Decrea... ORPHA:85293
Mucopolysaccharidosis, Type Iiid
Hirsutism, Coarse hair, Hyperactivity, Thick eyebrow, Synophrys OMIM:252940
16P12.1P12.3 Triplication Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Thick eyebrow, Bilateral cryptorchidism ORPHA:485405
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypoplastic labia minora, Hypogonadotropic hypogonadism, External genital hypoplasia, Small scrot... ORPHA:98754
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Angelman Syndrome
Blue irides, Progressive gait ataxia, Hypopigmentation of the skin, Hyperactivity, Broad-based ga... OMIM:105830
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Muenke Syndrome
Hypopigmented skin patches, Hypopigmentation of hair, Hypermelanotic macule ORPHA:53271
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypoplastic labia minora, Hypogonadotropic hypogonadism, External genital hypoplasia, Small scrot... ORPHA:98793
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Coarse hair, Hirsutism, Synophrys OMIM:252930
Stankiewicz-Isidor Syndrome
Hypospadias, Hyperactivity, Micropenis, Cryptorchidism, Shawl scrotum OMIM:617516
Acrodysostosis With Multiple Hormone Resistance
Hypospadias, Blue irides, Hypogonadism, Hyperactivity, Hypocalcemia, Cryptorchidism, Hyperphospha... ORPHA:280651
13Q12.3 Microdeletion Syndrome
Hyperactivity, Cryptorchidism ORPHA:412035
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypoplastic labia minora, Hypogonadotropic hypogonadism, External genital hypoplasia, Small scrot... ORPHA:177904
Wilson Disease
Failure to thrive, Weight loss, Increased body weight ORPHA:905
Bone Marrow Failure Syndrome 3
Small nail, Abnormality of skin pigmentation, Nail dystrophy, Hyperactivity, Aplasia/Hypoplasia o... OMIM:617052
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypoplastic labia minora, Hypogonadotropic hypogonadism, External genital hypoplasia, Small scrot... ORPHA:177901
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Elevated circulating creatinine concentration, Hyperuricemia, ... OMIM:137920
Legius Syndrome
Dystonia, Ovarian neoplasm, Male urethral meatus stenosis, Hyperactivity, Axillary freckling, Ing... ORPHA:137605
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hypospadias, Hyperactivity, Fine hair ORPHA:363686
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Abnormal circulating fatty-acid concentration, Hyperactivity, Inabil... ORPHA:139396
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Obesity OMIM:194072
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Hyperpigmentation of the skin, Long eyelashes, Hyperactivity, Curly hair, Mult... OMIM:607721
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Oculocerebral Hypopigmentation Syndrome, Cross Type
Athetosis, Ocular albinism, Ataxia, Iris hypopigmentation, Cryptorchidism, Hypopigmentation of hair ORPHA:2719
Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age ORPHA:263455
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Chediak-Higashi Syndrome
Gait disturbance, Silver-gray hair, Ocular albinism, Hypopigmentation of the skin, Ataxia, Iris h... OMIM:214500
Intellectual Disability-Strabismus Syndrome
Hypospadias, Gait disturbance, Highly arched eyebrow, Hyperactivity, Micropenis, Cryptorchidism, ... ORPHA:363528
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Hoyeraal-Hreidarsson Syndrome
Generalized hyperpigmentation, Nail dystrophy, Generalized hypopigmentation of hair, Ataxia, Spar... ORPHA:3322
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Prader-Willi-Like Syndrome
Hypoplastic labia minora, Hypogonadotropic hypogonadism, External genital hypoplasia, Small scrot... ORPHA:398073
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:99826
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Abnormal eyebrow morphology, Hypogonadism, Ataxia, Heterochromia irid... ORPHA:163746
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Fine hair, Sparse eyelashes, Onycholysis, Nail dystrophy, Sparse scalp hair, Hypoalbuminemia, Spa... OMIM:614748
Chédiak-Higashi Syndrome
Gait disturbance, Hyponatremia, Hypoproteinemia, Abnormality of retinal pigmentation, Hypopigment... ORPHA:167
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Koolen-De Vries Syndrome
Hypospadias, Cryptorchidism, Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Insulinoma
Increased body weight ORPHA:97279
Juvenile Polyposis Of Infancy
Freckled genitalia, Hypoalbuminemia ORPHA:79076
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Bifid scrotum, Hyperactivity, Penoscrotal transposition, Cryptorchidism, Cafe-au-lai... OMIM:619148
Angelman Syndrome
Precocious puberty in females, Hypopigmentation of the skin, Hyperactivity, Inability to walk, At... ORPHA:72
Glass Syndrome
Nail dysplasia, Hyperactivity, Sparse hair, Broad-based gait OMIM:612313
Von Hippel-Lindau Syndrome
Papillary cystadenoma of the epididymis, Epididymal cyst OMIM:193300
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypocholesterolemia, H... ORPHA:90363
Abdominal Obesity-Metabolic Syndrome 4
Obesity OMIM:618620
Hypohidrotic Ectodermal Dysplasia
Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis nodosa, Irregular hyperpigmen... ORPHA:238468
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age OMIM:616026
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Coffin-Siris Syndrome
Hypospadias, Small nail, Hirsutism, Hypertrichosis, Hypoplastic fifth toenail, Prominent eyelashe... ORPHA:1465
Seckel Syndrome 1
Hypospadias, Hyperactivity, Cryptorchidism, Clitoral hypertrophy OMIM:210600
Vici Syndrome
Ocular albinism, Albinism, Hypopigmentation of the skin, Penile hypospadias, Hypopigmentation of ... OMIM:242840
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Neonatal hyperbilirubinemia OMIM:609727
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Nail dystrophy, Nail dysplasia, Sparse scalp hair OMIM:256800
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small scrotum, Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Coarse hair, Shawl scrotum, Widow's peak ORPHA:1974
Prader-Willi Syndrome Due To Translocation
Stellate iris, Hypogonadotropic hypogonadism, External genital hypoplasia, Hyperpigmentation of t... ORPHA:177907
7Q11.23 Microduplication Syndrome
Hypospadias, Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Dysmetri... ORPHA:96121
Floating-Harbor Syndrome
Hypospadias, Congenital posterior urethral valve, Varicocele, Broad-based gait, Cryptorchidism, E... ORPHA:2044
Low Phospholipid-Associated Cholelithiasis
Obesity, Overweight ORPHA:69663
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder ORPHA:43
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Hyperactivity, Ataxia ORPHA:760
Syndromic Diarrhea
Abnormality of iron homeostasis, Brittle hair, Trichorrhexis nodosa, Uncombable hair, Woolly hair... ORPHA:84064
Hyperlysinemia
Hypoornithinemia, Thin eyebrow, Dysmetria, Hyperammonemia, Hyperactivity, Tip-toe gait, Hyperlysi... ORPHA:2203
Brittle Cornea Syndrome
Gait disturbance, Abnormality of hair pigmentation ORPHA:90354
Mody
Obesity, Large for gestational age, Overweight ORPHA:552
Adrenocortical Carcinoma
Weight loss, Increased body weight ORPHA:1501
Hallermann-Streiff Syndrome
Fine hair, Sparse eyelashes, Sparse scalp hair, Hyperactivity, Sparse and thin eyebrow, Cryptorch... OMIM:234100
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Increased body weight ORPHA:189427
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
Degcags Syndrome
Hypospadias, Hypertrichosis, Low anterior hairline, Chordee, Abnormality of skin pigmentation, Lo... OMIM:619488
Dubowitz Syndrome
Hypospadias, Sparse lateral eyebrow, Hyperactivity, Sparse scalp hair, Cryptorchidism OMIM:223370
Hermansky-Pudlak Syndrome
Partial albinism, Ocular albinism, Long eyelashes, Hypopigmentation of the skin, Melanocytic nevu... ORPHA:79430
Brain-Lung-Thyroid Syndrome
Hypospadias, Dystonia, Falls, Hyperactivity, Ataxia ORPHA:209905
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Increased body weight ORPHA:264580
Argininemia
Hyperargininemia, Hyperactivity, Spastic gait, Hyperammonemia OMIM:207800
Smith-Lemli-Opitz Syndrome
Hypospadias, Elevated 7-dehydrocholesterol, Hypopigmentation of hair, Clitoral hypertrophy, Ambig... ORPHA:818
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Pigmentary retinopathy, Hyperpigmentation of the skin, Bradykinesia, ... OMIM:234200
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Increased body weight ORPHA:189439
Mend Syndrome
Spotty hypopigmentation, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol, Hyperactivity,... ORPHA:401973
Distal Trisomy 17Q
Hyperactivity, Cryptorchidism, Low posterior hairline ORPHA:3379
Von Hippel-Lindau Disease
Papillary cystadenoma of the epididymis, Epididymal cyst ORPHA:892
Joubert Syndrome 39
Overweight OMIM:619562
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Nijmegen Breakage Syndrome
Hyperactivity, Progressive vitiligo, Premature ovarian insufficiency, Cafe-au-lait spot OMIM:251260
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Aplasia of the uterus, Aplasia of the vagina, Abnormal hair whorl ORPHA:457284
Cystinosis, Nephropathic
Hyponatremia, Hypopigmentation of hair, Retinal pigment epithelial mottling, Hypopigmentation of ... OMIM:219800
Smith-Lemli-Opitz Syndrome
Hypospadias, Bifid scrotum, Elevated 7-dehydrocholesterol, Hypocholesterolemia, Hyperactivity, Bi... OMIM:270400
Witteveen-Kolk Syndrome
Hypospadias, Fine hair, Hyperactivity, Micropenis, Cryptorchidism, High anterior hairline, Attent... OMIM:613406
Immunodeficiency 82 With Systemic Inflammation
Anoperineal fistula, Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoal... OMIM:619381
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia, Hypercholesterolemia, Increase... OMIM:619534
Early Infantile Epileptic Encephalopathy
Dystonia, Absent thumbnail, Hyperactivity, Micropenis, Episodic ataxia, Precocious puberty ORPHA:1934
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Hellp Syndrome
Increased body weight ORPHA:244242
Menkes Disease
Hypopigmentation of hair, Sparse hair, Woolly hair ORPHA:565
Rubinstein-Taybi Syndrome 1
Hypospadias, Highly arched eyebrow, Hirsutism, Bifid uterus, Low anterior hairline, Long eyelashe... OMIM:180849
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Unsteady gait, Ataxia OMIM:614756
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Pmm2-Cdg
Hypogonadotropic hypogonadism, Ataxia, Aplasia of the ovary, Reduced thyroxin-binding globulin, H... ORPHA:79318
Cushing Disease
Increased body weight, Truncal obesity, Abdominal obesity ORPHA:96253
Choreoacanthocytosis
Lingual dystonia, Loss of ambulation, Elevated circulating creatine kinase concentration, Oromand... ORPHA:2388
Cushing Syndrome Due To Ectopic Acth Secretion
Weight loss, Increased body weight, Truncal obesity, Abdominal 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 with optic nerve - cell and tissue damage Zc3h4em1(IMPC)Mbp HET Early adult
Eye with optic nerve - MPATH diagnostic 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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