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Gene: Pou3f2 MGI:101895

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
POU domain, class 3, transcription factor 2
Synonyms:
Brn2,  A230098E07Rik,  Brn-2,  Otf7,  9430075J19Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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.

Phenotype associated images not available

Human diseases caused by Pou3f2 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 Pou3f2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Type II diabetes mellitus, Delayed puberty ORPHA:2297
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis OMIM:101900
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... ORPHA:67045
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Short statur... OMIM:612526
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal... OMIM:608709
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbullous icht... OMIM:617571
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroidism, Delayed puberty,... ORPHA:95496
Palmoplantar Keratoderma And Congenital Alopecia 2
Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, ... OMIM:212360
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Hypogonadism, Hypopit... OMIM:615849
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis ORPHA:735
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia, Polycystic ovaries, Hepatic steat... ORPHA:79084
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Hepat... OMIM:614480
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Ichthyosis ORPHA:79503
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis,... ORPHA:79395
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Dystonia 30
Hypothalamic hamartoma OMIM:619291
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Short stature, Increased muscle l... OMIM:610717
Recessive X-Linked Ichthyosis
Cryptorchidism, Hyperkeratosis, Dry skin, Ichthyosis ORPHA:461
Acquired Ichthyosis
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis, Dry skin ORPHA:454
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Epidermolytic Palmoplantar Keratoderma
Interphalangeal joint contracture of finger, Hypergranulosis, Epidermal hyperkeratosis, Diffuse p... ORPHA:2199
Anonychia With Flexural Pigmentation
Hyperkeratosis, Follicular hyperkeratosis ORPHA:69125
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin ORPHA:2812
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Non-Acquired Panhypopituitarism
Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Decreased response to growth horm... ORPHA:90695
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435651
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,... OMIM:619476
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Excessive skin wrinkling on dorsum of hands and fingers, Palmoplan... ORPHA:498359
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Insulin-resistant diabetes mellitus, Lipodystrophy, Hepatic steatosis OMIM:613877
Ulerythema Ophryogenesis
Dry skin, Hyperkeratotic papule, Follicular hyperkeratosis, Facial erythema ORPHA:3406
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Severe short-limb dwarfism, Primary gonadal insufficiency, H... ORPHA:436182
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Pituitary dwarfism, Ectopic posterior pituitary, Hyp... ORPHA:226307
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Generalized hirsutism ORPHA:79087
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resista... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435660
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... OMIM:612281
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Glycogen Storage Disease Vi
Postnatal growth retardation, Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic ... OMIM:232700
Ichthyosis, Annular Epidermolytic, 1
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Congenital b... OMIM:607602
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Atrophic scars OMIM:131850
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoder... ORPHA:312
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis OMIM:607936
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Short stature, Primary hypothyroidism, Hepatic stea... ORPHA:300536
Bazex Syndrome
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigricans, Lipo... ORPHA:166113
Microphthalmia, Syndromic 11
Agenesis of pineal gland OMIM:614402
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoac... OMIM:615238
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperkeratosis, Atrophic scars, Palmoplantar hyperkeratosis ORPHA:89838
Obesity And Hypopigmentation
Red hair, Hepatic steatosis, Hyperinsulinemia OMIM:620195
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary OMIM:610125
Central Precocious Puberty In Male
Abnormality of the testis size, Pituitary microadenoma, Hypothalamic hamartoma, Abnormal response... ORPHA:649929
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Atrophoderma Vermiculata
Atrophic scars, Hyperkeratotic papule, Erythema, Follicular hyperkeratosis ORPHA:79100
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... ORPHA:300373
Erythrokeratodermia Variabilis
Diabetes mellitus, Erythema, Patchy palmoplantar hyperkeratosis, Dry skin, Hyperkeratosis, Abnorm... ORPHA:317
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Hyperin... ORPHA:363400
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function OMIM:616829
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology ORPHA:314621
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin, Scarring OMIM:247100
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Abnormal thyroid morp... ORPHA:139507
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95513
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet... OMIM:615381
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Cryptorchidism, Supernumerary nipple OMIM:618929
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619048
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Inguinal hernia, Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform eryt... OMIM:614457
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Erythema, Hyperkeratosis, Ichthyosis, Dry skin ORPHA:816
Combined Pituitary Hormone Deficiencies, Genetic Forms
Pituitary dwarfism, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased resp... ORPHA:95494
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:151660
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Short stature, Hepatosplenomegaly, Hypopituitar... OMIM:619013
Craniosynostosis 4
Ectopic posterior pituitary OMIM:600775
Moynahan Syndrome
Hyperkeratosis, Hypogonadism ORPHA:2574
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis ORPHA:79399
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... OMIM:300918
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... OMIM:264470
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Hepatic steatosis ORPHA:26792
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone co... OMIM:617872
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Hepatic steatosis OMIM:615918
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Hypogonadotropic hypogonadism, Honeycomb palmoplantar hyperkeratosis, Ichthyosis ORPHA:494
Ichthyosis, Hystrix-Like, With Deafness
Scarring alopecia of scalp, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperke... OMIM:602540
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis, Male hypogonadism, Hypothyroidism OMIM:618625
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Macrocephaly-Intellectual Disability-Autism Syndrome
Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Hepatic steatosis ORPHA:210548
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Lipod... ORPHA:2348
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis OMIM:620357
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Type II diabetes mellitus OMIM:615703
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Hypogonadotropic hypogonadism, Limb joint contracture, Centr... OMIM:612079
Bathing Suit Ichthyosis
Parakeratosis, Multiple joint contractures, Thickened skin, Palmoplantar hyperkeratosis, Palmopla... ORPHA:100976
Combined Oxidative Phosphorylation Deficiency 51
Growth delay, Intrauterine growth retardation, Focal T2 hyperintense thalamic lesion, Severe shor... OMIM:619057
Lymphatic Malformation 4
Hydrocele testis, Hyperkeratosis, Cellulitis OMIM:615907
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Psoriasis 2
Hyperkeratosis, Parakeratosis, Scaling skin OMIM:602723
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Diabetes mellitus, Lipodystrophy OMIM:615980
Gracile Syndrome
Cholestasis, Cirrhosis, Elevated hepatic iron concentration, Intrauterine growth retardation, Hep... ORPHA:53693
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Arthrogryposis multiplex congenita, Decreased thalamic volume OMIM:619072
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis OMIM:618546
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Mater... ORPHA:79083
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis, Dry skin, Scaling skin OMIM:618084
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... OMIM:221750
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... OMIM:606545
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis ORPHA:505
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue los... ORPHA:528
Proteus Syndrome
Lipoma, Hyperkeratosis, Multiple lipomas OMIM:176920
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... OMIM:131100
Classic Mycosis Fungoides
Hyperkeratosis, Erythema, Dry skin, Skin ulcer ORPHA:2584
Irida Syndrome
Hyperkeratosis, Pallor, Ichthyosis ORPHA:209981
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Hepatic steatosis, Cirrhosis OMIM:606069
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthy... OMIM:613576
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hepatocellular carcinoma, Growth dela... ORPHA:369
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... OMIM:619208
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes... OMIM:618160
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Adrenal calcification, Elevated circulating aspartate aminot... OMIM:278000
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... OMIM:173100
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... OMIM:148700
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Cutis laxa, Hypogonadism, Scaling skin, Generalized ichthyosis, Dry skin, Generalized hyperkeratosis ORPHA:2269
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619386
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Orthok... OMIM:604777
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:615821
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, ... OMIM:618641
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism OMIM:613724
3-Methylglutaconic Aciduria, Type V
Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Micr... OMIM:610198
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, ... ORPHA:79303
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Hepatic steatosis, Alopecia, Multiple joint contractures, Hypergonadotr... ORPHA:2959
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Ramon Syndrome
Hyperkeratosis, Diabetes mellitus, Abnormal dental enamel morphology ORPHA:3019
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... ORPHA:280365
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Abnormality of the adrenal glands, Skin ulcer ORPHA:68
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Rotor Syndrome
Jaundice, Storage in hepatocytes, Intermittent jaundice ORPHA:3111
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Atrophic scars, Scarring ORPHA:89843
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Increased muscle glycogen content, Incre... OMIM:261750
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Flexio... OMIM:614594
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis OMIM:133200
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Atrophic scars, Hernia, Follicular hyperkeratosis ORPHA:300179
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Scarring, Hepatocellular carci... ORPHA:101330
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... OMIM:613027
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Flexion contracture, Distal arthrogryposis ORPHA:98889
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Cryptorchidism, Follicular hyperkeratosis, Delayed puberty, Dry skin ORPHA:486815
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Flexion contracture, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythro... OMIM:242300
Chilblain Lupus
Hyperkeratosis, Skin ulcer ORPHA:90280
Schopf-Schulz-Passarge Syndrome
Hyperkeratosis, Palmoplantar keratoderma, Dry skin OMIM:224750
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Hyperkeratosis, Hypogonadism, Ichthyosis, Testicular seminoma ORPHA:281090
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Highly arched eyebrow, Postnat... OMIM:620305
Lymphatic Malformation 12
Hydrocele testis, Hyperkeratosis, Inguinal hernia, Neonatal death OMIM:620014
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612702
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy ORPHA:2822
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Hepatic steatosis, Decreased liver function ORPHA:70472
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Alopecia, Dorsocervical fat pad, Paradoxical... ORPHA:189427
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615438
Ichthyosis, Congenital, Autosomal Recessive 2
Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar ke... OMIM:242100
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Pan... OMIM:618805
Flynn-Aird Syndrome
Hyperkeratosis OMIM:136300
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Alopecia, Chronic active hepatitis, Hypergonado... OMIM:203800
Giant Axonal Neuropathy
Abnormal pituitary gland morphology ORPHA:643
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Small pituitary gland OMIM:614880
Bardet-Biedl Syndrome 19
Hepatic steatosis, Hypogonadism OMIM:615996
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Follicular hype... OMIM:616295
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Amyotrophic lateral sclerosis, Short stature, Abnormal motor neuron morphology ORPHA:52430
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Familial Keratoacanthoma
Hyperkeratosis, Adenoma sebaceum, Skin ulcer ORPHA:493
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Hypergranulosis OMIM:615023
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Generali... ORPHA:79086
Alexander Disease Type I
Abnormal thalamic MRI signal intensity ORPHA:363717
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis ORPHA:38
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Joint contracture, Dry skin, Follicular hyperkeratosis OMIM:617066
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... ORPHA:91351
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Short stature, Elevated circulating aspartate aminotransfera... OMIM:256810
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Short stature, Th... ORPHA:769
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Distal arthrogryposis, Decreased liver function, Hep... ORPHA:42
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Congenital Disorder Of Glycosylation, Type Iq
Hyperkeratosis, Dry skin, Cutis laxa, Ichthyosis OMIM:612379
Adrenomyodystrophy
Primary adrenal insufficiency, Hepatic steatosis, Short stature ORPHA:977
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis ORPHA:254478
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Inguinal hernia, Anterior pituitary hypoplasia, Elbow flexion contra... OMIM:181450
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin OMIM:618527
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Short ... OMIM:614921
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Intr... OMIM:617093
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... OMIM:608594
Lamellar Ichthyosis
Hyperkeratosis, Dry skin, Lack of skin elasticity, Ichthyosis ORPHA:313
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Growth delay, Hepatic steatosis, Fulminant hepatic failure, Hepatic necrosis OMIM:231530
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Erythema migrans, Parakeratosis, Palmoplantar hyperkeratosis ORPHA:158681
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Increased sarcoplasmic glycogen, Sple... ORPHA:264580
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology ORPHA:467166
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Scarring alopecia of scalp, Facial erythema, Palmoplantar keratoderma, Follicular hyperkeratosis,... OMIM:308800
Hypotrichosis 6
Erythema, Follicular hyperkeratosis OMIM:607903
Neurodevelopmental Disorder With Language Delay And Seizures
Growth delay, Cryptorchidism, Hypothyroidism, Hypothalamic hamartoma OMIM:619908
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:91355
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Hypothalamic hamartoma OMIM:241800
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Facial erythema, Skin vesicle, Palmoplantar erythema, Striae distensae ORPHA:64745
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:212140
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Intrauterine growth retardation, Multiple joint contractures, Ca... ORPHA:2570
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Growth delay, ... ORPHA:541423
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele... OMIM:614582
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Hepatic steatosis OMIM:275630
Leopard Syndrome 3
Hyperkeratosis, Dry skin, Epidermal hyperkeratosis OMIM:613707
Cog2-Cdg
Small pituitary gland ORPHA:435934
Hidrotic Ectodermal Dysplasia
Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... ORPHA:189
Hypotrichosis Simplex Of The Scalp
Hyperkeratosis, Parakeratosis, Scaling skin ORPHA:90368
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Knee flexion contracture, Hepatosplenomegaly, Hepati... ORPHA:79322
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Precocious puberty, Hypothyroidism, Cryptorchidism, Synophrys, Intrauterine gr... ORPHA:254346
Stankiewicz-Isidor Syndrome
Cryptorchidism, Pineal cyst OMIM:617516
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin, Abnormal dental enamel morphology ORPHA:1028
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... OMIM:269700
Oculoskeletodental Syndrome
Abnormal thalamus morphology, Enamel hypoplasia, Short stature, Abnormality of the frontal hairline ORPHA:557003
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Abnormal pineal melatonin s... ORPHA:69665
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Inguinal hernia, Short stature, Ectopic posterior pituit... ORPHA:508488
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Hyperkeratosis, Ovarian cyst, Pancreat... OMIM:246200
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion ORPHA:254881
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer ORPHA:36386
Cach Syndrome
T2 hypointense thalamus, Flexion contracture, Hepatosplenomegaly, Growth delay, Intrauterine grow... ORPHA:135
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Severe short stature, Elevated circulating aspartate amino... OMIM:617253
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Flexion contracture, Scaling skin, Dry skin OMIM:609180
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami OMIM:617542
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Werner Syndrome
Lipodystrophy, Lipoatrophy, Lack of skin elasticity, Skin ulcer, Ovarian neoplasm, Hyperkeratosis... ORPHA:902
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Short stature, Pancreatic fibrosis, Postnatal... OMIM:616263
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... OMIM:261680
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Stillbirth, Decreased liver function, Neonatal death, Hepatic steatosis OMIM:614922
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Lichen Planopilaris
Hyperkeratosis, Skin ulcer ORPHA:525
Cimdag Syndrome
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis OMIM:619273
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:600649
Vulvovaginal Gingival Syndrome
Parakeratosis, Erythema ORPHA:83453
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diabetes me... ORPHA:98908
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Costello Syndrome
Redundant skin, Abnormal dental enamel morphology, Cryptorchidism, Lack of skin elasticity, Hyper... ORPHA:3071
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Follicular hyperkeratosis OMIM:615147
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Posterior pituitary hypoplasia, Abnormality of the anterior pituitary ORPHA:75389
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology, Gliosis ORPHA:88619
Chylomicron Retention Disease
Growth delay, Increased hepatocellular lipid droplets, Hepatic steatosis, Elevated hepatic transa... ORPHA:71
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Flexion contracture, Hy... OMIM:613327
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:201450
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Bile duct proliferation, Ichthyosis, Orthokeratosis, Enamel hypoplasia, Dry skin OMIM:607626
Noonan Syndrome 8
Palmoplantar cutis laxa, Hyperkeratosis, Cryptorchidism OMIM:615355
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis OMIM:613736
Harlequin Ichthyosis
Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis ORPHA:457
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Adrenal hypoplasia, Flexion contracture, Erythema, Hyperkeratosis, Congenital icht... OMIM:308050
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Short stature, Micronodular cirrhosis, Inc... ORPHA:98907
Dowling-Degos Disease
Skin vesicle, Hyperkeratosis, Hyperkeratotic papule ORPHA:79145
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Proportionate short stature, Fasting hyperi... ORPHA:71212
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular necrosis OMIM:201475
Congenital Disorder Of Glycosylation, Type Iit
Pineal cyst OMIM:618885
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Pallor, Male hypogonadism, Hypert... ORPHA:91347
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Enamel hypoplasia, Palmoplantar keratoderma OMIM:616029
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Brittle hair, Hepatic steatosis, Pancreatitis OMIM:236200
Arthrogryposis And Ectodermal Dysplasia
Diabetes mellitus, Abnormal dental enamel morphology, Dry skin, Atypical scarring of skin, Hyperk... OMIM:601701
Lipoid Proteinosis
Hyperkeratosis, Thickened skin, Scarring ORPHA:530
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Mac... ORPHA:298
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis, Joint contracture of the 5th finger, Camptodactyly of finger ORPHA:1883
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Cholestasis, Port... OMIM:614300
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis OMIM:618531
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus ORPHA:1947
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Neonatal death, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Portal hypert... OMIM:619487
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... OMIM:615486
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617388
Trichothiodystrophy 1, Photosensitive
Flexion contracture, Absence of subcutaneous fat, Hyperkeratosis, Hypogonadism, Congenital nonbul... OMIM:601675
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:369840
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands OMIM:617337
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:605814
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Delayed ... ORPHA:247585
Prolidase Deficiency
Erythema, Skin ulcer, Hyperkeratosis, Palmoplantar keratoderma, Dry skin ORPHA:742
Hidrotic Ectodermal Dysplasia, Halal Type
Supernumerary nipple, Follicular hyperkeratosis ORPHA:1809
Milroy Disease
Hydrocele testis, Hyperkeratosis, Cellulitis ORPHA:79452
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... OMIM:300972
3-Methylglutaconic Aciduria Type 7
Growth delay, Hepatic steatosis, Hypothyroidism, Elevated hepatic transaminase ORPHA:445038
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Flexion contracture, Growth delay, Intrauterine growth retardation, Hepatic steatosis OMIM:616271
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Parakeratosis, Psoriasiform lesion, Scaling skin ORPHA:284426
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis ORPHA:228305
Gaucher Disease, Perinatal Lethal
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Neonatal death, Art... OMIM:608013
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism, A... OMIM:212065
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Abnormal thalamus morphology ORPHA:404440
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Congenital Disorder Of Glycosylation, Type Iil
Hyperkeratosis, Enamel hypoplasia, Dry skin OMIM:614576
Bethlem Myopathy
Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu... ORPHA:610
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis ORPHA:79279
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypergranulosis, Acantholysis, Palmoplantar keratoderma, Ichthyosis, Orthokeratosis, Reduced circ... OMIM:615508
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland ORPHA:369950
Odontoonychodermal Dysplasia
Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperk... OMIM:257980
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr... OMIM:619418
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion OMIM:619046
Chromomycosis
Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule, Atypical scarring of skin ORPHA:182
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:608836
Linear Verrucous Nevus Syndrome
Hyperkeratosis ORPHA:2611
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Lipoma, Hyperkeratosis, Multinodular goiter OMIM:620189
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology, Knee flexion contracture ORPHA:435638
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Pearson Syndrome
Hypoparathyroidism, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Decr... ORPHA:699
Sialidosis Type 1
Hyperkeratosis, Hernia ORPHA:812
Wilson Disease
Hypoparathyroidism, Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotran... OMIM:277900
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis OMIM:615279
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Follicular hyperkeratosis OMIM:613102
Congenital Disorder Of Glycosylation, Type Im
Hyperkeratosis, Dry skin, Ichthyosis OMIM:610768
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Synophrys, Flexion contracture, Low anterior hairline, Low posterior ... OMIM:617303
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion ORPHA:79264
Acute Radiation Syndrome
Hyperkeratosis, Scaling skin, Skin ulcer ORPHA:454831
Bloom Syndrome
Postnatal growth retardation, Cryptorchidism, Growth delay, Type II diabetes mellitus, Intrauteri... OMIM:210900
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Growth... ORPHA:66634
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:212138
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity ORPHA:444013
Ichthyosis, Congenital, Autosomal Recessive 11
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:602400
Chronic Mucocutaneous Candidiasis
Hyperkeratosis, Erythema, Abnormal dental enamel morphology, Skin ulcer ORPHA:1334
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrocele testis, Dermal translucency, Reduced subcutaneous adipose tissue, Epidermal hyperkeratosis OMIM:137940
Subacute Cutaneous Lupus Erythematosus
Hyperkeratosis, Psoriasiform lesion ORPHA:163525
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis OMIM:610227
Ichthyosis Prematurity Syndrome
Generalized ichthyosis, Follicular hyperkeratosis OMIM:608649
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, H... ORPHA:2088
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:615225
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Flexion contracture, Dry skin OMIM:619306
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Thickened skin, Elevated circulating thyroid-stimulating hormone concentration, Palm... OMIM:601812
Monosomy 13Q34
Growth delay, Hepatic steatosis, Horizontal eyebrow ORPHA:96168
Fucosidosis
Hypothyroidism, Generalized hyperkeratosis, Lipoatrophy ORPHA:349
Eec Syndrome
Abnormal dental enamel morphology, Decreased response to growth hormone stimulation test, Hyperke... ORPHA:1896
Cardiofaciocutaneous Syndrome
Redundant skin, Cryptorchidism, Hyperkeratosis, Excessive wrinkled skin, Palmoplantar keratoderma... ORPHA:1340
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Spondylodysplastic Ehlers-Danlos Syndrome
Agenesis of pineal gland, Multiple joint contractures, Inguinal hernia, Cryptorchidism, Flexion c... ORPHA:536471
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis ORPHA:1839
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Skin ulcer ORPHA:1806
Monilethrix
Follicular hyperkeratosis ORPHA:573
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... OMIM:261515
Incontinentia Pigmenti
Scarring, Supernumerary nipple, Erythema, Hyperkeratosis, Breast aplasia, Hypoplastic nipples, Pa... OMIM:308300
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Hepatic steatosis, Elevated hepatic transaminase ORPHA:99901
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma... ORPHA:79501
Pachyonychia Congenita
Palmoplantar keratoderma, Linear arrays of macular hyperkeratoses in flexural areas, Follicular h... ORPHA:2309
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Hepatic steatosis ORPHA:412
Aceruloplasminemia
Diabetes mellitus, Abnormal pancreas morphology, Abnormal thalamic MRI signal intensity, Hepatic ... ORPHA:48818
Aromatase Deficiency
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... ORPHA:91
Meige Disease
Atypical scarring of skin, Cobblestone-like hyperkeratosis, Skin ulcer, Cellulitis ORPHA:90186
Hydranencephaly
Postnatal growth retardation, Thalamic edema, Intrauterine growth retardation, Dysgenesis of the ... ORPHA:2177
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hepatic steatosis, Alop... ORPHA:79474
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Absence of... ORPHA:398079
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:348
Neonatal Lupus Erythematosus
Hyperkeratosis, Parakeratosis ORPHA:398124
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Postnatal growth retardation, Abnormal thalamus morphology ORPHA:300570
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hyperkeratosis, Abnormal dental enamel morphology, Ichthyosis ORPHA:1005
Hypohidrotic Ectodermal Dysplasia
Hyperkeratosis, Dry skin, Breast aplasia ORPHA:238468
Neuroferritinopathy
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity ORPHA:157846
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Inguinal hernia, Short stature, Portal hypertension, Cholestasis, ... OMIM:613658
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity ORPHA:254930
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Short stature, White hair ORPHA:2720
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Elbow flexion contracture, Corneal scarring, Knee flexion contracture, Hyperkeratosis, Ichthyosis OMIM:148210
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Jaundice, Cholestasis, Cirrhosis... OMIM:617156
Bone Marrow Failure Syndrome 3
Pancreatic steatosis, Cryptorchidism, Hyperkeratosis, Hernia, Hyperechogenic pancreas, Enamel hyp... OMIM:617052
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hepatomegaly, Short stature, Hepatocellular carcinoma, Thyroiditis, Hepatocell... ORPHA:79259
Naxos Disease
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:601214
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Short stature, Intrauterine growth retardation, Hepa... OMIM:615356
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity ORPHA:485421
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis ORPHA:746
Monilethrix
Perifollicular hyperkeratosis OMIM:158000
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Fg Syndrome Type 1
Inguinal hernia, Progressive flexion contractures, Facial wrinkling, Cryptorchidism, Small pituit... ORPHA:93932
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:2232
Psoriasis 14, Pustular
Parakeratosis, Erythema OMIM:614204
Turner Syndrome Due To Structural X Chromosome Anomalies
Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Short stature, Biliary cirr... ORPHA:99413
Turner Syndrome
Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Short stature, Biliary cirr... ORPHA:881
Mosaic Monosomy X
Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Short stature, Biliary cirr... ORPHA:99228
Monosomy X
Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Short stature, Biliary cirr... ORPHA:99226
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Brittle hair, Cholangitis, Microvesicular hepatic steatosis, Chole... OMIM:124000
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Flexion contracture, Growth delay, Increased intramy... ORPHA:17
Poikiloderma With Neutropenia
Hyperkeratosis, Plantar hyperkeratosis, Palmoplantar keratoderma OMIM:604173
Rhombencephalosynapsis
Fusion of the left and right thalami ORPHA:59315
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona... OMIM:619377
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Short stature, Postnatal growth retardation, Sparse ... OMIM:619127
Hereditary Cryohydrocytosis With Reduced Stomatin
Short stature, Postnatal growth retardation, Jaundice, Decreased thalamic volume, Hepatosplenomegaly ORPHA:168577
Japanese Encephalitis
Paucity of anterior horn motor neurons, Elbow flexion contracture, Focal T2 hyperintense thalamic... ORPHA:79139
Incontinentia Pigmenti
Camptodactyly of finger, Abnormal dental enamel morphology, Supernumerary nipple, Erythema, Skin ... ORPHA:464
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume ORPHA:370959
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis ORPHA:163966
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... OMIM:618329
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Liver Disease, Severe Congenital
Dry hair, Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, Hepati... OMIM:619991
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia... ORPHA:93111
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma ORPHA:28378
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Decreased testicular size, Sclerodactyly OMIM:610644
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocious puberty, C... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocious puberty, C... ORPHA:363958
Leigh Syndrome
Alopecia, Multiple joint contractures, Abnormal thalamic MRI signal intensity, Growth delay, Intr... ORPHA:506
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis OMIM:210200
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Diffuse hepatic steatosis, Decreased liver function ORPHA:436271
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Intrauterine growth retardation, Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Precocious puberty, Cryptorchidism, Flexion contracture, Absence of pubertal ... ORPHA:398069
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Isolated Exencephaly
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes ORPHA:563612
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Elevated circula... ORPHA:94089
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis, Corneal scarring OMIM:301220
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Hepa... ORPHA:444490
17Q24.2 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst ORPHA:529962
Ullrich Congenital Muscular Dystrophy 1
Flexion contracture, Follicular hyperkeratosis OMIM:254090
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Short stature, Flexion contracture, Hypoplasia of the ovary, Intrauterine growth retard... OMIM:619321
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic failure, Hepatic steatosis, Hepatic calcification ORPHA:228308
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Sparse hair, Hepatic steatosis,... ORPHA:3455
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin ORPHA:79431
Congenital Disorder Of Deglycosylation 2
Hypothalamic hamartoma OMIM:619775
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Hypothyroidism, Hepatic fibrosis, Cirrhosis, Hepatic... ORPHA:14
Xeroderma Pigmentosum
Thickened skin, Cryptorchidism, Erythema, Hyperkeratosis, Hypogonadism, Dry skin, Decreased testi... ORPHA:910
Pachyonychia Congenita 3
Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar hyperkeratosis OMIM:615726
Netherton Syndrome
Parakeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:256500
Oculoectodermal Syndrome
Supernumerary nipple, Pineal cyst OMIM:600268
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619573
Ogden Syndrome
Inguinal hernia, Short stature, Maternal diabetes, Postnatal growth retardation, Cryptorchidism, ... OMIM:300855
Noonan Syndrome 2
Palmoplantar cutis laxa, Hyperkeratosis, Arthrogryposis multiplex congenita, Cryptorchidism OMIM:605275
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis OMIM:133190
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Cry... ORPHA:739
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... OMIM:619525
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Synophrys, Flexion contracture, Knee flexi... OMIM:619503
Microphthalmia, Syndromic 3
Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal growth ret... OMIM:206900
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Adrenal calcification, Hyperspleni... ORPHA:275761
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Intrauter... ORPHA:247598
Orofaciodigital Syndrome I
Dry hair, Alopecia, Short stature, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Hypothalamic... OMIM:311200
Arima Syndrome
Hepatomegaly, Growth delay, Hepatic fibrosis, Cirrhosis, Hepatic steatosis OMIM:243910
Tay-Sachs Disease
Abnormality of glycolipid metabolism, Precocious puberty, GM2-ganglioside accumulation, Abnormal ... ORPHA:845
Noonan Syndrome 10
Palmoplantar cutis laxa, Hyperkeratosis, Cryptorchidism OMIM:616564
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... ORPHA:20
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function, Increased intram... OMIM:220110
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Nodular regenerative hyperpl... ORPHA:404454
Aicardi-Goutieres Syndrome 7
Hepatic steatosis, Hepatomegaly, Splenomegaly, Hepatitis, Intrauterine growth retardation, Hypoth... OMIM:615846
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hyperkeratosis, Adrenal insufficiency OMIM:615510
Orofaciodigital Syndrome Type 6
Short stature, Highly arched eyebrow, Bilateral cryptorchidism, Growth delay, Hypothalamic hamartoma ORPHA:2754
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity ORPHA:83597
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Subungual hyperkeratosis, Inguinal hernia, Omphalocele, Perianal erythem... OMIM:308205
Cardiofaciocutaneous Syndrome 1
Hyperkeratosis, Ichthyosis OMIM:115150
Helsmoortel-Van Der Aa Syndrome
Cryptorchidism, Gliosis, Decreased response to growth hormone stimulation test, Pineal cyst OMIM:615873
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:203700
Leprechaunism
Reduced subcutaneous adipose tissue, Enlarged ovaries, Thickened skin, Hyperinsulinemia, Central ... ORPHA:508
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Hyperparakeratosis, Hydrocele testis, Multiple lipomas, Ovarian serous cystadenoma ORPHA:276280
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Hepatomegaly, Microvesicular hepatic steatosis, Flexion contracture, Elbow flexi... OMIM:300868
Autoimmune Polyendocrinopathy Type 3
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Thy... ORPHA:227982
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Cryptorchidism, Hyperkeratosis, Inguinal hernia, Ichthyosis OMIM:607721
Digeorge Syndrome
Hepatic steatosis, Inguinal hernia, Short stature, Parathyroid agenesis, Decreased circulating pa... OMIM:188400
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hyperkeratosis OMIM:612852
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Inguinal hernia, Absence of Stensen duct, Decreased response to growth hormone stimulation test, ... OMIM:129900
Kindler Epidermolysis Bullosa
Abnormal dental enamel morphology, Camptodactyly of finger, Flexion contracture, Erythema, Atypic... ORPHA:2908
Chime Syndrome
Hyperkeratosis, Erythema, Skin ulcer, Ichthyosis ORPHA:3474
Autoimmune Polyendocrinopathy Type 4
Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Anterior pituitary dysgenesis, Thy... ORPHA:227990
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Hepatic steatosis, Short stature, Camptodactyly of finger, Cryptorch... ORPHA:1606
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Short stature, Precocious puberty, Cryptorchidism, Splenomegaly, Growth delay, Chol... OMIM:270400
Kid Syndrome
Scarring alopecia of scalp, Knee flexion contracture, Congenital ichthyosiform erythroderma, Palm... ORPHA:477
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Thick eyebrow, Synophrys, Jaundice, Delayed puberty, Intrauterine ... OMIM:619475
Cowden Syndrome
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gland, Palm... ORPHA:201
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ... OMIM:604292
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Thalamic hemorrhage, Abnormality of the liver ORPHA:464321
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Kanzaki Disease
Hyperkeratosis, Dry skin, Petechiae OMIM:609242
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Cryptorchidism, Delayed puberty, Pineal cyst OMIM:300967
Hermansky-Pudlak Syndrome
Hyperkeratosis, Thickened skin, Abnormal dental enamel morphology ORPHA:79430
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Inguinal hernia, Cutis laxa, Atrophic scars, Follicular hyperkeratosis, Umbilical hernia OMIM:614557
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Lower-limb joint contracture, Pineal cyst ORPHA:513456
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Hepatic steatosis OMIM:229600
Pallister-Hall Syndrome
Thyroid hypoplasia, Inguinal hernia, Short stature, Adrenal hypoplasia, Precocious puberty, Crypt... ORPHA:672
Mycetoma
Cobblestone-like hyperkeratosis ORPHA:2583
Leprosy
Testicular mass, Penetrating foot ulcers, Hyperkeratosis, Abnormality of the adrenal glands, Acra... ORPHA:548
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Flexion contracture, Small pituitary gland OMIM:619479
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma OMIM:277170
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hyperkeratosis with erythema, Knee flexion contracture OMIM:118650
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Shoulder flexion contracture, Cryptorchidism, Flexion contracture, Elbow flexion... OMIM:210710
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis OMIM:618278
Lymphatic Filariasis
Orchitis, Hyperkeratosis, Vaginal hydrocele, Hydrocele testis ORPHA:2035
Ectodermal Dysplasia-Skin Fragility Syndrome
Scaling skin, Palmoplantar keratoderma, Scarring, Follicular hyperkeratosis ORPHA:158668
Restrictive Dermopathy
Multiple joint contractures, Camptodactyly of finger, Epidermal hyperkeratosis, Aplasia/Hypoplast... ORPHA:1662
Holoprosencephaly 7
Fusion of the left and right thalami, Omphalocele, Panhypopituitarism OMIM:610828
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Palmoplantar cutis laxa, Excessive wrinkled skin, Inguinal hernia, Follicular hyperkeratosis OMIM:225400
Restrictive Dermopathy 1
Limb joint contracture, Adrenal hypoplasia, Epidermal hyperkeratosis, Flexion contracture, Stillb... OMIM:275210
Fabry Disease
Hyperkeratosis, Diabetes insipidus, Delayed puberty ORPHA:324
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Camptodactyly of finger, Cryptor... ORPHA:2273
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:610829
Reactive Arthritis
Hyperkeratosis, Enthesitis ORPHA:29207
De Sanctis-Cacchione Syndrome
Bilateral cryptorchidism, Parakeratosis OMIM:278800
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity ORPHA:79138
Mucoepithelial Dysplasia, Hereditary
Follicular hyperkeratosis OMIM:158310
Igg4-Related Ophthalmic Disease
Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis, Sialadenitis ORPHA:449563
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Thickened skin, Hypoplastic sweat glands, Localized hypoplasia of dental enamel, Epidermal thicke... ORPHA:73223
Warburg-Cinotti Syndrome
Ankle flexion contracture, Erythema, Elbow flexion contracture, Follicular hyperkeratosis, Flexio... OMIM:618175
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Highly arched eyebrow, Microvesicular hepatic steatosis, Low anterior hairline, ... OMIM:220111
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hernia, Congenital hypothy... ORPHA:2255
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Inguinal hernia, Biliary hyperplasia, Cryptorchidism, Contracture of the distal in... ORPHA:83617
Kyphoscoliotic Ehlers-Danlos Syndrome
Atypical scarring of skin, Umbilical hernia, Inguinal hernia, Follicular hyperkeratosis ORPHA:536545
Proteus Syndrome
Thymus hyperplasia, Diabetes insipidus, Abnormal dental enamel morphology, Testicular neoplasm, N... ORPHA:744
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Abnormality of the anter... ORPHA:438213
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hyperkeratosis ORPHA:79280
Williams Syndrome
Inguinal hernia, Hypogonadotropic hypogonadism, Abnormal dental enamel morphology, Redundant skin... ORPHA:904
6Q Terminal Deletion Syndrome
Hyperkeratosis ORPHA:75857
Igg4-Related Kidney Disease
Sialadenitis, Abnormality of the anterior pituitary, Thyroiditis ORPHA:449395
Ramon Syndrome
Hyperkeratosis OMIM:266270
Norrie Disease
Abnormality of the diencephalon, Cryptorchidism, Diabetes mellitus, Delayed puberty ORPHA:649
Homozygous Familial Hypercholesterolemia
Hepatic steatosis ORPHA:391665

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pou3f2

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 Pou3f2.

No publications found that use IMPC mice or data for Pou3f2.

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MGI Allele Allele Type Produced
Pou3f2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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