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Gene: Abhd5 MGI:1914719

Gene Summary

Name:

abhydrolase domain containing 5

Synonyms:

IECN5, CGI-58, 1300003D03Rik, 2010002J10Rik, NCIE2

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal maxilla morphology	Abhd5^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.54×10^-05
abnormal snout morphology	Abhd5^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.24×10^-05
decreased body weight	Abhd5^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.52×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 4)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 4)
Bone	N/A	heterozygote	25% (1 of 4)
Brain	N/A	heterozygote	25% (1 of 4)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	50% (2 of 4)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 4)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 4)
Gall bladder	N/A	heterozygote	0.0% (0 of 4)
Heart	N/A	heterozygote	50% (2 of 4)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	0.0% (0 of 4)
Large intestine	N/A	heterozygote	0.0% (0 of 4)
Liver	N/A	heterozygote	0.0% (0 of 4)
Lower urinary tract	N/A	heterozygote	25% (1 of 4)
Lung	N/A	heterozygote	0.0% (0 of 4)
Lymph node	N/A	heterozygote	0.0% (0 of 4)
Mammary gland	N/A	heterozygote	0.0% (0 of 4)
Esophagus	N/A	heterozygote	50% (2 of 4)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	25% (1 of 4)
Oviduct	N/A	heterozygote	0.0% (0 of 4)
Pancreas	N/A	heterozygote	0.0% (0 of 4)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 4)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 4)
Peyer's patch	N/A	heterozygote	0.0% (0 of 4)
Pituitary gland	N/A	heterozygote	0.0% (0 of 4)
Prostate gland	N/A	heterozygote	0.0% (0 of 4)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 4)
Skin	N/A	heterozygote	100% (4 of 4)
Small intestine	N/A	heterozygote	0.0% (0 of 4)
Spinal cord	N/A	heterozygote	50% (2 of 4)
Spleen	N/A	heterozygote	0.0% (0 of 4)
Stomach	N/A	heterozygote	0.0% (0 of 4)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (2 of 4)
Thymus	N/A	heterozygote	0.0% (0 of 4)
Thyroid gland	N/A	heterozygote	0.0% (0 of 4)
Trachea	N/A	heterozygote	25% (1 of 4)
Uterus	N/A	heterozygote	0.0% (0 of 4)
White adipose tissue	N/A	heterozygote	50% (2 of 4)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

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

6 Images

View images

Legacy Phenotype Associated Images

Abhd5^{tm1a(KOMP)Wtsi}
body, HOM, Female, WTSI

Abhd5^{tm1a(KOMP)Wtsi}
head, HOM, Female, WTSI

Abhd5^{tm1a(KOMP)Wtsi}
forearm, HOM, Female, WTSI

Abhd5^{tm1a(KOMP)Wtsi}
head, HOM, Male, WTSI

View all 68 images

Abhd5^{tm1a(KOMP)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Abhd5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Abhd5 (2 diseases)
Human diseases predicted to be associated with Abhd5 (662 diseases)

The table below shows human diseases associated to Abhd5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Neutral Lipid Storage Disease With Ichthyosis		Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm...	ORPHA:98907
Chanarin-Dorfman Syndrome		Hepatomegaly, Hepatic steatosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:275630

The table below shows human diseases predicted to be associated to Abhd5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Porokeratosis Plantaris Palmaris Et Disseminata	Pruritus, Hyperkeratotic papule, Palmoplantar hyperkeratosis, Porokeratosis	ORPHA:737
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia	OMIM:619324
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ...	OMIM:232700
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Increased m...	OMIM:610717
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Ichthyosis, Congenital, Autosomal Recessive 13	Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:617574
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Miscarriage, Insulin resistance, Insulin-resistant diabetes mellitus, Acant...	OMIM:613877
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp...	OMIM:612526
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:278000
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Insulin resistance, Type II diabetes mellitus, Hypercholesterolemia, Hepati...	OMIM:615703
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Decreased...	OMIM:616829
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic f...	ORPHA:280356
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Type II diabetes mellitus	ORPHA:2297
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis	OMIM:101900
Aquagenic Palmoplantar Keratoderma	Edema, Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmar pruritus	ORPHA:498359
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis	ORPHA:79503
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Diabetes mellitu...	ORPHA:79147
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus,...	OMIM:604367
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis	ORPHA:89838
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Hyperlipidemia, Insulin resistance, Acanthosis nigricans, Hepatic steatosis	OMIM:615980
Ulerythema Ophryogenesis	Miscarriage, Acne, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermatitis	ORPHA:3406
Anonychia With Flexural Pigmentation	Hyperkeratosis, Follicular hyperkeratosis	ORPHA:69125
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin	ORPHA:2812
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Edema, Pruritus, Splenomegaly, Hyperkeratosis, Abnormal lymphocy...	ORPHA:2584
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Small for gestational age, Wide nasal bridge	OMIM:618302
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Acanthosis n...	ORPHA:363400
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	ORPHA:454
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis	ORPHA:79399
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hepat...	OMIM:619013
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi...	OMIM:301045
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Graham Little-Piccardi-Lassueur Syndrome	Pruritus, Perifollicular hyperkeratosis	ORPHA:505
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Small for gestational age, Decreased body weight	ORPHA:93950
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Acan...	ORPHA:79085
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis	OMIM:618400
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Diabetic ketoacidosis, Acanthosis nigricans, Hepatic steatosis	OMIM:615238
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke...	ORPHA:90280
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Acanthosis nigricans, Hepa...	ORPHA:79084
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform eryt...	OMIM:617571
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Parakeratosis, Hemolytic anemia, Skin rash, Maculopa...	ORPHA:398124
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Portal fibrosis, Hepat...	ORPHA:369
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin res...	OMIM:615381
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi...	ORPHA:139507
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino...	ORPHA:293173
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate amino...	OMIM:617253
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hepatic steatosis	OMIM:620357
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Inflammatory abnormality of the skin, Increased circulating free fatty acid lev...	OMIM:610768
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin r...	ORPHA:79083
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Pruritus, Jaundice, Intermittent jaundice,...	ORPHA:3111
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Acanthosis nigricans, He...	ORPHA:435651
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:619048
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Decreased body weight	ORPHA:93945
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Incr...	ORPHA:293964
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Cirr...	ORPHA:528
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:619386
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617526
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Acanthos...	ORPHA:2348
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Acan...	ORPHA:435660
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa...	OMIM:606069
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Aca...	ORPHA:71
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Atrophoderma Vermiculata	Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypoglycemia, Hepatic failure, Hepatic steatosis	OMIM:617872
Bazex Syndrome	Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Acanthosis nigricans, A...	ORPHA:166113
Peroxisomal Acyl-Coa Oxidase Deficiency	Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati...	OMIM:264470
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno...	OMIM:616828
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia, Eczema, Edema, Pruritus, Cholelithiasis, Hepatic failure	OMIM:177000
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype...	ORPHA:2199
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Splenomegaly, Jaund...	ORPHA:905
Acquired Partial Lipodystrophy	Insulin resistance, Hepatic steatosis, Lymphocytosis	ORPHA:79087
Erythrokeratodermia Variabilis	Hyperkeratosis, Diabetes mellitus, Skin rash, Patchy palmoplantar hyperkeratosis	ORPHA:317
Short Chain Acyl-Coa Dehydrogenase Deficiency	Hepatic steatosis, Ketotic hypoglycemia	ORPHA:26792
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hepatic fibrosis	OMIM:232400
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Increased circulating free fatty acid level...	ORPHA:71212
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm...	ORPHA:98907
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Ma...	ORPHA:209902
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Palmoplantar Keratoderma And Congenital Alopecia 2	Hyperkeratosis, Sclerodactyly, Palmoplantar hyperkeratosis	OMIM:212360
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Cobblestone-like hyperkeratosis, Palmopl...	OMIM:602540
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Failure to thrive, Micrognathia, Hypoplasia of the maxilla, Wide nasal bri...	OMIM:620157
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratod...	ORPHA:312
Fanconi-Bickel Syndrome	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransf...	ORPHA:2088
Combined Oxidative Phosphorylation Deficiency 40	Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Nonimmune hydrops fetalis, ...	OMIM:618835
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia...	ORPHA:79086
Combined Oxidative Phosphorylation Deficiency 42	Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Nonimmune hydrops fetalis, ...	OMIM:618839
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:212140
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis	ORPHA:89843
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Parakeratosis, Super...	ORPHA:284426
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre...	ORPHA:64745
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosi...	ORPHA:79395
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Perianal abscess, Hyperlipidemia, Ja...	ORPHA:444490
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Microvesicul...	OMIM:605814
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Parakeratosis, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Cholestasis, ...	OMIM:607626
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Eczema, Microcytic anemia, Hyperkeratosis, Ichthyosis	OMIM:612379
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Death in infancy, Splenomegaly, Choles...	OMIM:614576
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper...	OMIM:620014
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin	OMIM:247100
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Hepatic st...	OMIM:615438
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatic fibros...	ORPHA:247585
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Failure to thrive, Small for gestational age, Slender build	OMIM:608154
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Death in infanc...	OMIM:300972
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Slender build	OMIM:300676
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Death in infancy, Hypoglycemia, Microvesicular hepatic steatosis, ...	OMIM:611126
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase...	OMIM:261680
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Obesity	ORPHA:397973
Maxillonasal Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Short nose	ORPHA:1248
Proteus Syndrome	Splenomegaly, Hyperkeratosis	OMIM:176920
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Lichen Planopilaris	Pruritus, Hyperkeratosis, Hepatitis	ORPHA:525
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypertriglyceridemia, Insu...	OMIM:203800
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Insulin resistan...	OMIM:613327
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa...	OMIM:619208
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir...	ORPHA:101330
Combined Oxidative Phosphorylation Deficiency 21	Neonatal death, Hepatic steatosis	OMIM:615918
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pruritus, Pustule, Cutaneous a...	ORPHA:555905
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype...	OMIM:151660
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Short nose	ORPHA:1529
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic...	OMIM:251880
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia, Bone-marrow ...	ORPHA:275761
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Malar flattening, Wide nasal bridge	ORPHA:261295
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:615821
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Neonatal hypoglycemia, Microv...	OMIM:619418
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu...	OMIM:612281
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abnormal lactate dehydrogenase level, ...	ORPHA:42
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla	ORPHA:2776
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Ichthyosis, Pa...	OMIM:615508
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Hepatic steatosis	OMIM:608709
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis	OMIM:620195
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Hypertrigly...	ORPHA:98908
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Hep...	OMIM:618805
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Cerebral edema	OMIM:201450
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Flynn-Aird Syndrome	Hyperkeratosis	OMIM:136300
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Short nose	OMIM:137550
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Death in infancy, Polyhydramnios, Stillbirth, Decreased liver function, Death in ch...	OMIM:614922
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Hepatic steatosis, Decreased liver function	ORPHA:70472
Donohue Syndrome	Hyperinsulinemia, Cholestasis, Hyperkeratosis, Hepatic fibrosis, Pancreatic islet-cell hyperplasi...	OMIM:246200
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Thin bony cortex, Abnormal ...	ORPHA:79106
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans	ORPHA:409
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d...	OMIM:231530
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Increased circulat...	OMIM:600649
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Ichthyosis Prematurity Syndrome	Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma	OMIM:608649
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:617093
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Follicular hyperker...	OMIM:616295
Keratoderma Hereditarium Mutilans	Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis	ORPHA:494
Moynahan Syndrome	Hyperkeratosis	ORPHA:2574
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla	OMIM:246560
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta...	OMIM:300918
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ...	OMIM:615023
Dislocation Of The Hip-Dysmorphism Syndrome	Malar flattening, Prominence of the premaxilla, Wide nasal bridge	ORPHA:2412
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Superficial Epidermolytic Ichthyosis	Ichthyosis, Palmoplantar keratoderma, Edema, Acantholysis	ORPHA:455
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Edema, Splenomegaly, Hyperkeratosis, Leukopenia, Palmoplantar ...	OMIM:604173
Harlequin Ichthyosis	Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis	ORPHA:457
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferas...	OMIM:256810
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Lymphedema, Hyperkeratosis, Hepatomegaly	ORPHA:79279
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Short nose	ORPHA:90653
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Death in infancy, Splenomegaly, Abnormality of the spleen, Hydrops fe...	ORPHA:85212
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:79151
Rothmund-Thomson Syndrome, Type 1	Hyperkeratosis	OMIM:618625
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta	OMIM:601216
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Nonimmune hydrops fetalis, Edema, ...	OMIM:212065
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Short nose, Ret...	OMIM:614753
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt...	OMIM:604777
Mandibulofacial Dysostosis With Alopecia	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Wide nasal b...	OMIM:616367
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ...	OMIM:242300
Lamellar Ichthyosis	Pruritus, Erythroderma, Dehydration, Hyperkeratosis, Ichthyosis	ORPHA:313
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hepatomegaly, Hemolytic anemia, Hypertriglyceridemi...	OMIM:619573
Sjögren-Larsson Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:816
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia,...	ORPHA:189427
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegaly, Thrombocytopenia, Hepatosp...	OMIM:608013
Mednik Syndrome	Hyperkeratosis, Intrahepatic cholestasis, Ichthyosis	ORPHA:171851
Darier-White Disease	Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis	OMIM:124200
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Skin rash, Abscess, Pustule, Splenomegaly, Hyperkeratosis, Joint swel...	OMIM:612852
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Xanthelasma, Hyperchol...	ORPHA:412
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypertriglyceridemia, Hypogl...	ORPHA:79259
Acrokeratoelastoidosis Of Costa	Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosis, Hyperkeratotic papule	ORPHA:38
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure	ORPHA:156
Hypotrichosis Simplex Of The Scalp	Pruritus, Hyperkeratosis, Parakeratosis, Atopic dermatitis	ORPHA:90368
Ramon Syndrome	Hyperkeratosis, Diabetes mellitus	ORPHA:3019
Hemochromatosis, Neonatal	Hypoglycemia, Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, ...	OMIM:231100
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure	ORPHA:83451
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m...	OMIM:608594
Lymphatic Malformation 4	Hyperkeratosis, Pedal edema, Lymphedema	OMIM:615907
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma	OMIM:613576
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Reduced carnitine O-palmitoyltransferase level, Hepa...	ORPHA:228305
Psoriasis 14, Pustular	Parakeratosis, Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis	OMIM:614204
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Malar flattening, Micrognathia	OMIM:241310
Hypotrichosis 6	Pruritus, Follicular hyperkeratosis	OMIM:607903
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Death in early adulthood, Edema, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence,...	OMIM:605676
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Cerebral edema, In...	ORPHA:99901
Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:461
Irida Syndrome	Hyperkeratosis, Intrahepatic cholestasis, Ichthyosis	ORPHA:209981
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Acantholysis	ORPHA:704
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Acanthos...	ORPHA:280365
Stuve-Wiedemann Syndrome 2	Eczema, Death in adolescence, Stillbirth, Neonatal death, Thrombocytopenia	OMIM:619751
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis	OMIM:602723
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hypercholesterolem...	OMIM:610644
Chromomycosis	Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato...	ORPHA:182
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Death in infancy, Hepatocellular necrosis, Periportal fibr...	OMIM:201475
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Hyperlipidemia, Hepatic calcification, Reduced carnitine O-palmitoyltransferase lev...	ORPHA:228308
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Hepatomegaly, Decreased liver function	OMIM:614870
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Chilblains, Po...	OMIM:619487
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis	ORPHA:254478
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod...	OMIM:148700
Netherton Syndrome	Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Hypereos...	OMIM:256500
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Microvesicu...	OMIM:613070
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla	OMIM:156510
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis	ORPHA:300179
Peeling Skin Syndrome 6	Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis	OMIM:618084
Bathing Suit Ichthyosis	Parakeratosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Congenital nonbullous i...	ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis	OMIM:613943
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Neonatal death, Hepatic periportal necrosis, He...	OMIM:231680
Lipoid Proteinosis	Pustule, Hyperkeratosis, Acne, Thickened skin	ORPHA:530
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Meige Disease	Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio...	ORPHA:90186
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Death in childhood, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis	OMIM:614457
Dowling-Degos Disease	Pruritus, Hyperkeratosis, Hyperkeratotic papule, Acne inversa	ORPHA:79145
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Short nose, Failure to thrive, Small for gestational age	OMIM:614261
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Acute leukemia, Ichthyosis	ORPHA:281090
Bardet-Biedl Syndrome 19	Hepatic steatosis	OMIM:615996
Gracile Syndrome	Death in early adulthood, Cholestasis, Cirrhosis, Elevated hepatic iron concentration, Hepatic st...	ORPHA:53693
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating lactate ...	ORPHA:247598
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Hepatic fibros...	ORPHA:541423
Vulvovaginal Gingival Syndrome	Pruritus, Parakeratosis	ORPHA:83453
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Short nose	OMIM:122880
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Nonketotic hypoglycemia, Hypoglyce...	OMIM:608836
Ddost-Cdg	Elevated hepatic transaminase, Hepatic steatosis	ORPHA:300536
Prolidase Deficiency	Hepatomegaly, Pruritus, Splenomegaly, Crusting erythematous dermatitis, Hyperkeratosis, Palmoplan...	ORPHA:742
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia	OMIM:212138
Cleft Lip/Palate	Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta...	ORPHA:199306
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Frontonasal Dysplasia 1	Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Wide nasal bridge	OMIM:136760
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Long nose, Dental malocclusio...	OMIM:257850
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Infection associated neutropenia, Neutropenia, Hepatic steatosis, ...	ORPHA:445038
19P13.12 Microdeletion Syndrome	Hyperlipidemia, Hepatic steatosis	ORPHA:254346
Pearson Syndrome	Hydrops fetalis, Dehydration, Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomeg...	ORPHA:699
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Ichthyosis, Congenital, Autosomal Recessive 11	Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:602400
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr...	OMIM:614921
Noonan Syndrome 8	Hyperkeratosis, Pleural effusion, Eczema, Polyhydramnios	OMIM:615355
Combined Oxidative Phosphorylation Deficiency 2	Elevated hepatic transaminase, Neonatal death, Edema	OMIM:610498
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Copper accumulation in liver, Cirrhosis	ORPHA:209919
3-Methylglutaconic Aciduria, Type V	Normochromic microcytic anemia, Microvesicular hepatic steatosis, Elevated circulating alanine am...	OMIM:610198
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Neonatal hypoglycemia, Dehydration, Leukopenia, Neutropenia, Hepatic steatosis, T...	OMIM:616271
Peeling Skin Syndrome 4	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:607936
Aromatase Deficiency	Hyperlipidemia, Insulin resistance, Type II diabetes mellitus, Acanthosis nigricans, Hepatic stea...	ORPHA:91
Erythrokeratodermia Variabilis Et Progressiva 3	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis	OMIM:617525
Hidrotic Ectodermal Dysplasia	Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	ORPHA:189
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Malar flattening, Short nose, Micrognathia	ORPHA:79113
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas	ORPHA:79452
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis	ORPHA:79322
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan...	ORPHA:2137
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Hyperkeratosis, Granulocytopenia, Lymphopenia, Thrombocytop...	ORPHA:454831
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death, Eosinophilia, Neutropenia	OMIM:257100
Chronic Mucocutaneous Candidiasis	Pruritus, Hyperkeratosis, Skin rash, Hepatitis	ORPHA:1334
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Micrognathia	OMIM:166300
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Short nose, Wide nasal bridge	OMIM:218000
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Pruritus, Parakeratosis, Palmoplantar hyperkeratosis	ORPHA:158681
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Death in infancy, Hypoglycemia, Polyhydramnios, Microvesicular hep...	OMIM:617156
Pemphigus Erythematosus	Malar rash, Acantholysis	ORPHA:79480
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:275630
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Nonimmune hydrops fetalis, Anemia	OMIM:618838
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Edema, ...	ORPHA:20
White Sponge Nevus 2	Hyperparakeratosis, Edema	OMIM:615785
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital bullous ichthyosiform ery...	OMIM:607602
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla	OMIM:618737
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating alkaline phosphatase concentration, Hepatic steatosis	ORPHA:52430
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Thrombocytop...	OMIM:617052
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Palmoplantar keratoderma	OMIM:224750
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla...	ORPHA:439822
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Death in infancy, Edema, Thrombocytopenia, Cholestasis, Decreased liver function, N...	OMIM:608104
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Death in infancy, Erythroderma	OMIM:609180
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Wilson Disease	Acute hepatic failure, Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransf...	OMIM:277900
Ichthyosis, Congenital, Autosomal Recessive 3	Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth...	OMIM:606545
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Wide nasal bridge, Decreased body weight	OMIM:614886
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl...	OMIM:261750
Epidermolysis Bullosa, Lethal Acantholytic	Neonatal death, Acantholysis	OMIM:609638
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Anemia, Macrovesicular hepatic steatosis, Cirrhosis	ORPHA:298
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:167730
Cholestasis, Progressive Familial Intrahepatic, 5	Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, No...	OMIM:617049
Cohen Syndrome	Small for gestational age, Micrognathia, Hypoplasia of the maxilla, Macrodontia of permanent maxi...	OMIM:216550
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:245400
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans	OMIM:618527
Aarskog-Scott Syndrome	Hypoplasia of the maxilla, Wide nasal bridge, Delayed eruption of teeth	ORPHA:915
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Osteootohepatoenteric Syndrome	Pruritus, Microvesicular hepatic steatosis, Cholestasis, Dehydration, Portal fibrosis, Hepatic fi...	OMIM:619377
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla	ORPHA:85279
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Acantholysis, T...	ORPHA:36426
Warty Dyskeratoma	Acrokeratosis, Epidermal thickening, Acantholysis	ORPHA:69745
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Ichthyosis, Congenital, Autosomal Recessive 2	Hypergranulosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar keratoderma,...	OMIM:242100
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hyperinsulinemia, Glycosuria, Elevated circulating a...	ORPHA:263455
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:1540
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Chole...	OMIM:124000
Macrocephaly-Intellectual Disability-Autism Syndrome	Hepatic steatosis	ORPHA:210548
Ichthyosis, Annular Epidermolytic, 2	Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:620148
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Thickened skin, Thrombocytopenia, Death in childhood, Leukopenia, Mac...	OMIM:617303
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Cholestasis, Port...	OMIM:614300
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Wide nasal bridge, S...	ORPHA:950
Leopard Syndrome 3	Hyperkeratosis, Epidermal hyperkeratosis	OMIM:613707
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	ORPHA:369840
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Palmo...	OMIM:619127
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Malar flattening	ORPHA:93262
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Decreased body weight, Retrognathia, Aplastic zygomatic ...	OMIM:616462
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Acantholysis, Thrombocytopenia, Neutropenia...	ORPHA:537
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Microcytic anemia, Insulin-resistant dia...	ORPHA:2959
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Neonatal death, Hepatomegaly, Polyhydramnios, Hypocholesterolemia	OMIM:618810
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Palmoplantar hyperker...	OMIM:617388
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Acanthocytosis, Hepatic fibrosis, C...	ORPHA:14
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Short nos...	ORPHA:2409
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Hepatic stea...	OMIM:616263
Lujan-Fryns Syndrome	Hypoplasia of the maxilla, Micrognathia	ORPHA:776
Sialidosis Type 1	Splenomegaly, Hyperkeratosis	ORPHA:812
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Naxos Disease	Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:601214
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Leprechaunism	Hepatomegaly, Thickened skin, Insulin resistance, Hyperinsulinemia, Hyperkeratosis, Hyperaldoster...	ORPHA:508
Keipert Syndrome	Hypoplasia of the maxilla	ORPHA:2662
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:308800
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Hyperkeratosis, Malar rash	ORPHA:163525
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa	OMIM:617337
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis	OMIM:615279
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Wide nasal bridge, Hypoplas...	ORPHA:560
Meier-Gorlin Syndrome 4	Hypoplasia of the maxilla, Failure to thrive, Micrognathia	OMIM:613804
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Wide nasal bridge	OMIM:601499
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl...	ORPHA:763
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Follicular hyperkeratosis	OMIM:617066
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea...	OMIM:618329
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Wide nasal bridge	ORPHA:782
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypochromic microcytic anemia, N...	ORPHA:66634
Hypophosphatemic Rickets, X-Linked Recessive	Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic ...	OMIM:300554
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex	OMIM:600081
Palmoplantar Keratoderma And Congenital Alopecia 1	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hemolytic anemia, Pancytopenia, Skin rash, Chilblains, Edema, Pericardial effusion,...	OMIM:615846
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Failure to thrive, Delayed eruption of primary teeth	OMIM:620099
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis, Erythroderma	OMIM:133190
Atelosteogenesis, Type Iii	Hypoplasia of the maxilla, Malar flattening, Micrognathia	OMIM:108721
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Aarskog-Scott Syndrome	Hypoplasia of the maxilla, Short nose, Failure to thrive, Wide nasal bridge	OMIM:305400
Cleft Velum	Hypoplasia of the maxilla	ORPHA:99772
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Death in infancy	ORPHA:163966
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Polyhydramn...	OMIM:261515
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis	ORPHA:36386
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis	ORPHA:1883
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Follicular hyperkeratosis	ORPHA:486815
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Eunuchoid habitus	ORPHA:3044
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Palmoplantar keratoderma	OMIM:616029
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Decreased body weight, Failure to...	OMIM:300534
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Glycosuria, Decreased liver function, Increased intramyocellular lipid droplets, De...	OMIM:220110
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp...	OMIM:232220
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Anemia	ORPHA:436271
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Hypoplasia of the maxilla	ORPHA:228396
Pfeiffer Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short nose	OMIM:101600
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening	OMIM:109120
Trichothiodystrophy 1, Photosensitive	Hyperkeratosis, Death in infancy, Congenital nonbullous ichthyosiform erythroderma, Erythroderma	OMIM:601675
Costello Syndrome	Acanthosis nigricans, Hyperkeratosis, Polyhydramnios	ORPHA:3071
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Hypoglycemia, Portal hypertension, Cholestasis, Anas...	OMIM:613658
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Xanthelasma, Fasting h...	OMIM:232200
8Q22.1 Microdeletion Syndrome	Hypoplasia of the maxilla, Wide nasal bridge	ORPHA:178303
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic rickets, Thin ...	OMIM:241530
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
Werner Syndrome	Hyperkeratosis, Insulin resistance, Miscarriage, Type II diabetes mellitus	ORPHA:902
Crouzon Syndrome	Hypoplasia of the maxilla	ORPHA:207
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Pro...	OMIM:170390
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Failure to thrive	ORPHA:481152
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy, Congenital ichthyosiform erythroderma	OMIM:242500
Lethal Acantholytic Erosive Disorder	Oligohydramnios, Acantholysis	ORPHA:158687
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Temtamy Preaxial Brachydactyly Syndrome	Hypoplasia of the maxilla, Short nose, Talon cusp, Micrognathia	ORPHA:363417
Atypical Werner Syndrome	Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsuli...	ORPHA:79474
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Pancreatitis	OMIM:236200
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Hypoglycemia	OMIM:210200
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Microvesicular hepatic steatosis, ...	OMIM:618278
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Generalized hyperkeratosis, Generalized ichthyosis	ORPHA:2269
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Secondary hyperparathyroidism, ...	OMIM:264700
Mitochondrial Trifunctional Protein Deficiency	Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis, Hypoketotic hypoglycemia	ORPHA:746
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Death in infancy, Polyhydramnios, Seborrheic dermatitis, Microvesicular hepatic ste...	OMIM:300868
Nager Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:245
Angelman Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Obesity	OMIM:105830
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Secondary hyperparathyroidism, ...	OMIM:277440
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:615225
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Decreased liver function, Dehydration	OMIM:602199
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis	ORPHA:1028
Bloom Syndrome	Elevated hemoglobin A1c, Type II diabetes mellitus, Leukemia, Malar rash, Hepatic steatosis	OMIM:210900
Carpenter Syndrome 1	Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Obesity, Malar flattening	OMIM:201000
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Splenomegaly, Atopic dermatitis, Hyperkeratosis, Ichthyosis	OMIM:115150
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla	OMIM:619142
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Edema, Splenomegaly, Leukocytosis, Abnormal granulocyte...	ORPHA:1451
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Liver Disease, Severe Congenital	Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration, Pancreatic h...	OMIM:619991
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:17
Meier-Gorlin Syndrome 5	Hypoplasia of the maxilla, Failure to thrive, Micrognathia	OMIM:613805
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Retrognathia, Short nose, Fai...	OMIM:601812
Mitochondrial Trifunctional Protein Deficiency 2	Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:620300
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Hyperkeratosis, Recurrent bacterial skin infections, Ichthyosis	OMIM:148210
Dysostosis, Stanescu Type	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Carious teeth, Abnormal dental ename...	ORPHA:1798
Pachyonychia Congenita	Palmoplantar keratoderma, Linear arrays of macular hyperkeratoses in flexural areas, Follicular h...	ORPHA:2309
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hypoplasia of the maxilla, Long nose, Micrognathia	OMIM:309520
Andersen-Tawil Syndrome	Abnormality of dental color, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathi...	ORPHA:37553
Dent Disease 1	Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex	OMIM:300009
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Secondary hyperpa...	ORPHA:289157
Fabry Disease	Hyperkeratosis, Hyperlipidemia, Anemia, Lymphedema	ORPHA:324
Cimdag Syndrome	Microvesicular hepatic steatosis, Cholelithiasis, Death in early adulthood, Hepatomegaly	OMIM:619273
Bethlem Myopathy	Hyperkeratosis, Increased muscle lipid content	ORPHA:610
Kagami-Ogata Syndrome	Hypoplasia of the maxilla, Retrognathia, Micrognathia	OMIM:608149
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:1005
Adrenomyodystrophy	Hepatic steatosis	ORPHA:977
Van Maldergem Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Wide nasal bridge, Malar flattening	OMIM:601390
Monosomy 13Q34	Insulin resistance, Hepatic steatosis	ORPHA:96168
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Microretrognathia	ORPHA:1307
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:106260
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Generalized hyperkeratosis	ORPHA:349
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:614887
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Cohen Syndrome	Failure to thrive in infancy, Micrognathia, Hypoplasia of the maxilla, Obesity, Hypoplasia of the...	ORPHA:193
Hypohidrotic Ectodermal Dysplasia	Hyperkeratosis, Xerostomia, Eczema	ORPHA:238468
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis	ORPHA:2583
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Hypoplasia of the ma...	OMIM:101800
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Hepat...	OMIM:229600
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Dehydration, Periportal fibros...	OMIM:263200
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Stillbirth, Orthokeratosis	OMIM:308050
Treacher-Collins Syndrome	Failure to thrive, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Wi...	ORPHA:861
Van Maldergem Syndrome 2	Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Wide nasal bridge, Malar flattening	OMIM:615546
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:28378
Recon Progeroid Syndrome	Prominence of the premaxilla, Delayed eruption of permanent teeth	OMIM:620370
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, A...	ORPHA:93111
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:203700
Cardiofaciocutaneous Syndrome	Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Lymphedema	ORPHA:1340
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma...	ORPHA:79501
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis	OMIM:616672
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Advanced eruption of teeth, Craniofacial hyperostosis, Delayed eruptio...	ORPHA:192
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Lymphedema, Palpebral edema, Nonimmune hydrops fetalis, Epidermal hyperkeratosis	OMIM:137940
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Death in infancy, Eczema, Splenomegaly, Cholestatic liver disease, Cirrhosis, Hypoc...	OMIM:270400
Distal Xq28 Microduplication Syndrome	Hypoplasia of the maxilla	ORPHA:293939
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Eruption failure, Ma...	OMIM:166250
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ...	OMIM:615726
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Crouzon Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	OMIM:123500
Incontinentia Pigmenti	Hyperkeratosis, Leukocytosis, Maculopapular exanthema, Eosinophilia	OMIM:308300
Noonan Syndrome 2	Hyperkeratosis, Increased nuchal translucency, Leukemia, Polyhydramnios	OMIM:605275
Cerebrofacioarticular Syndrome	Hypoplasia of the maxilla, Wide nasal bridge, Micrognathia	ORPHA:314679
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis	ORPHA:1806
Ullrich Congenital Muscular Dystrophy 1	Follicular hyperkeratosis	OMIM:254090
Marshall-Smith Syndrome	Microretrognathia, Prominence of the premaxilla, Failure to thrive, Decreased body weight, Short ...	OMIM:602535
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Skin rash, Acantholysis, Xer...	ORPHA:95455
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Geroderma Osteodysplasticum	Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening	OMIM:231070
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Hypoplasia of teeth	ORPHA:50814
Incontinentia Pigmenti	Hyperkeratosis, Skin rash, Eosinophilia	ORPHA:464
Brachytelephalangic Chondrodysplasia Punctata	Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine, Short nose	ORPHA:79345
Mednik Syndrome	Death in infancy, Cholestasis, Ichthyosis, Hepatic fibrosis, Cirrhosis, Death in childhood, Neona...	OMIM:609313
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:615356
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma...	OMIM:232240
Mohr Syndrome	Hypoplasia of the maxilla, Malar flattening, Agenesis of central incisor, Micrognathia	OMIM:252100
Singleton-Merten Syndrome 2	Hyperkeratosis	OMIM:616298
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Severe B ly...	ORPHA:83617
Cowden Syndrome 5	Hypoplasia of the maxilla, Micrognathia	OMIM:615108
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hyperkeratosis, Eczema, Polyhydramnios, Ichthyosis	OMIM:607721
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia	ORPHA:2975
Mucoepithelial Dysplasia, Hereditary	Eosinophilia, Follicular hyperkeratosis, Chronic mucocutaneous candidiasis	OMIM:158310
Meier-Gorlin Syndrome 3	Hypoplasia of the maxilla, Microretrognathia, Failure to thrive, Micrognathia	OMIM:613803
Rapp-Hodgkin Syndrome	Hypoplasia of the maxilla, Enamel hypoplasia, Taurodontia, Carious teeth	OMIM:129400
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis	OMIM:301220
Nablus Mask-Like Facial Syndrome	Hypoplasia of the maxilla, Short nose, Retrognathia, Wide nasal bridge	OMIM:608156
Shprintzen-Goldberg Syndrome	Hypoplasia of the maxilla, Failure to thrive, Retrognathia, Micrognathia	ORPHA:2462
Cowden Syndrome 6	Hypoplasia of the maxilla, Micrognathia	OMIM:615109
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Large for gestational age, Hypoplasia of the maxilla, Micrognathia, Wide nasal bridge, Recurrent ...	OMIM:213980
Arthrogryposis And Ectodermal Dysplasia	Hyperkeratosis, Diabetes mellitus	OMIM:601701
Hypotrichosis And Recurrent Skin Vesicles	Follicular hyperkeratosis	OMIM:613102
Martsolf Syndrome 1	Hypoplasia of the maxilla, Micrognathia	OMIM:212720
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, ...	OMIM:257980
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Death in infancy, Recurrent skin infections, E...	OMIM:308205
Noonan Syndrome 10	Increased nuchal translucency, Hyperkeratosis, Pleural effusion	OMIM:616564
Familial Keratoacanthoma	Hyperkeratosis	ORPHA:493
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Supernumerary tooth,...	OMIM:211380
Ogden Syndrome	Pulmonary edema, Eczema, Maternal diabetes, Lymphedema, Microvesicular hepatic steatosis, Jaundic...	OMIM:300855
Hermansky-Pudlak Syndrome	Hyperkeratosis, Neutropenia, Thickened skin	ORPHA:79430
Apert Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Delayed eruption of teeth	ORPHA:87
Lymphatic Filariasis	Hyperkeratosis, Predominantly lower limb lymphedema, Hypereosinophilia, Lymphedema	ORPHA:2035
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Premature ovarian insufficiency, Cryptorchidism,...	ORPHA:221008
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla	ORPHA:2095
Arima Syndrome	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia	OMIM:243910
3Mc Syndrome 2	Prominence of the premaxilla, Wide nasal bridge	OMIM:265050
Cowden Syndrome 1	Hypoplasia of the maxilla, Micrognathia	OMIM:158350
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla	ORPHA:251061
Reactive Arthritis	Pustule, Hyperkeratosis, Joint swelling	ORPHA:29207
Frontorhiny	Hypoplasia of the maxilla, Hypoplastic frontal sinuses	ORPHA:391474
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Splenomeg...	ORPHA:404454
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla	ORPHA:2399
Goldberg-Shprintzen Syndrome	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:609460
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, Retrognathia, Mandibular aplasia, Failure to thrive	ORPHA:2554
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Osteopetrosis	OMIM:612301
Afibrinogenemia, Congenital	Death in infancy, Splenic rupture, Death in adolescence, Death in childhood, Neonatal death	OMIM:202400
Kindler Epidermolysis Bullosa	Hyperkeratosis, Palmoplantar keratoderma, Recurrent skin infections, Anemia	ORPHA:2908
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Infertility, Reduced bone mineral density	ORPHA:2909
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Lymphedema, Hyperinsulinemia, Biliary cirrhosis, Glucose intoleran...	ORPHA:99413
Turner Syndrome	Elevated hepatic transaminase, Lymphedema, Hyperinsulinemia, Biliary cirrhosis, Glucose intoleran...	ORPHA:881
Mosaic Monosomy X	Elevated hepatic transaminase, Lymphedema, Hyperinsulinemia, Biliary cirrhosis, Glucose intoleran...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Lymphedema, Hyperinsulinemia, Biliary cirrhosis, Glucose intoleran...	ORPHA:99226
Shprintzen-Goldberg Craniosynostosis Syndrome	Hypoplasia of the maxilla, Dental malocclusion, Micrognathia	OMIM:182212
Dent Disease	Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex	ORPHA:1652
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Recurrent skin infections, Type II diabetes mellitus, Acanthosis nigricans,...	ORPHA:3455
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hypoplasia of the maxilla, Delayed eruption of teeth, Micrognathia	OMIM:259600
Meier-Gorlin Syndrome 1	Hypoplasia of the maxilla, Failure to thrive, Small for gestational age, Micrognathia	OMIM:224690
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Cryptorchidism	ORPHA:221016
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis	OMIM:615510
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Dental...	OMIM:209885
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Jaundice, Hepatic steatosis, Palpebral edema	OMIM:619475
Stickler Syndrome	Abnormal dental enamel morphology, Cachexia, Micrognathia, Hypoplasia of the maxilla, Advanced er...	ORPHA:828
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the frontal sinuses, Wide nasal bridge, Hypoplas...	ORPHA:306542
Chime Syndrome	Hyperkeratosis, Acute leukemia, Ichthyosis	ORPHA:3474
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Follicular hyperkerat...	ORPHA:158668
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hemolytic anemia, Portal hypertension, Fetal ascites, Atopic dermatitis, Cholestasis, Hepatosplen...	OMIM:619503
Koolen-De Vries Syndrome Due To A Point Mutation	Hyperkeratosis, Eczema, Ichthyosis	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hyperkeratosis, Eczema, Ichthyosis	ORPHA:363958
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Death in childhood, Hyperkeratosis, Stillbirth, Prolonged neonatal jaundice, Ol...	OMIM:210710
Eec Syndrome	Hypoplasia of the thymus, Hyperkeratosis, Xerostomia	ORPHA:1896
Rubinstein-Taybi Syndrome 1	Failure to thrive, Small for gestational age, Micrognathia, Hypoplasia of the maxilla, Talon cusp...	OMIM:180849
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Hypoplasia of the maxilla, Short nose, Taurodontia	OMIM:305100
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Lymphedema	ORPHA:79280
Microphthalmia With Limb Anomalies	Hypoplasia of the maxilla, Failure to thrive, Hypoplasia of the premaxilla, Micrognathia	ORPHA:1106
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla	ORPHA:794
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis	OMIM:620189
Holoprosencephaly 9	Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Agenesis of incisor, Dental malocclusion...	OMIM:610829
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic s...	OMIM:220111
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Craniofacial hyperostosis	ORPHA:2588
Zttk Syndrome	Hypoplasia of the maxilla, Short nose, Failure to thrive, Wide nasal bridge	OMIM:617140
Myhre Syndrome	Mandibular prognathia, Small for gestational age, Hypoplasia of the maxilla, Obesity, Malar flatt...	OMIM:139210
Alström Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Portal hypertension, Splenomeg...	ORPHA:64
Xeroderma Pigmentosum	Hyperkeratosis, Thickened skin	ORPHA:910
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:1101
Van Den Ende-Gupta Syndrome	Hypoplasia of the maxilla, Malar flattening, Micrognathia	OMIM:600920
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis	OMIM:619934
Bartsocas-Papas Syndrome 1	Hypoplasia of the maxilla, Short nose, Micrognathia	OMIM:263650
Distal Deletion 19P	Hypoplasia of the maxilla	ORPHA:96129
Digeorge Syndrome	Acne, Seborrheic dermatitis, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus, Cholelithi...	OMIM:188400
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Neonatal death...	OMIM:619534
Dyskeratosis Congenita	Hypoplasia of the maxilla, Taurodontia, Carious teeth	ORPHA:1775
Greenberg Dysplasia	Hypoplasia of the maxilla, Retrognathia, Micrognathia	OMIM:215140
Leprosy	Hyperkeratosis, Abnormality of the spleen, Abnormality of the liver	ORPHA:548
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Exocrine pancreatic insufficiency, Elevated circulating alanine aminotransfer...	OMIM:618500
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla	OMIM:277600
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Jaundice, Neutropenia, Neonatal death, Neonatal hypoglycemia	OMIM:617248
Kanzaki Disease	Hyperkeratosis, Lymphedema	OMIM:609242
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Polyhydramnios, Follicular hyperkeratosis	OMIM:614557
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening, Decreased body weight	OMIM:617402
Homozygous Familial Hypercholesterolemia	Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665
1P36 Deletion Syndrome	Abnormality of the spleen, Abnormality of the liver, Hepatic steatosis, Annular pancreas	ORPHA:1606
Branchioskeletogenital Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Carious teeth, Abnormal dentin morphology	ORPHA:1299
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Large for gestational age, Hypoplasia of the maxilla, Micrognathia, Wide n...	ORPHA:96334
Aicardi Syndrome	Prominence of the premaxilla	ORPHA:50
De Sanctis-Cacchione Syndrome	Parakeratosis	OMIM:278800
Restrictive Dermopathy 1	Polyhydramnios, Epidermal hyperkeratosis, Stillbirth, Neonatal death, Oligohydramnios	OMIM:275210
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Hepatic steatosis	OMIM:619321
Aicardi Syndrome	Prominence of the premaxilla	OMIM:304050
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Seborrheic dermatitis	ORPHA:276280
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hyperkeratosis, Eczema, Ichthyosis	ORPHA:2273
Floating-Harbor Syndrome	Small for gestational age, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth...	ORPHA:2044
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla	OMIM:608328
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hyperkeratosis, Xerostomia	OMIM:604292
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Micrognathia	OMIM:614437
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hyperkeratosis, Xerostomia	OMIM:129900
6Q Terminal Deletion Syndrome	Hyperkeratosis	ORPHA:75857
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Malar flattening, Cleft of chin, Long nose	OMIM:101400
Ablepharon Macrostomia Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone	ORPHA:920
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:180500
Warburg-Cinotti Syndrome	Joint swelling, Follicular hyperkeratosis, Sterile abscess	OMIM:618175
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Follicular hyperkeratosis	OMIM:225400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Short nose, Failure to thrive in infancy, Wide nasal bridge	ORPHA:500150
Ramon Syndrome	Hyperkeratosis	OMIM:266270
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Supernumerary tooth,...	OMIM:614188
Kyphoscoliotic Ehlers-Danlos Syndrome	Follicular hyperkeratosis	ORPHA:536545
Cowden Syndrome	Palmoplantar keratoderma, Generalized hyperkeratosis	ORPHA:201
Restrictive Dermopathy	Generalized hyperkeratosis, Polyhydramnios, Epidermal hyperkeratosis	ORPHA:1662
Proteus Syndrome	Thymus hyperplasia, Lymphedema, Splenomegaly, Thickened skin, Generalized hyperkeratosis	ORPHA:744
Singleton-Merten Syndrome 1	Hypoplasia of the maxilla, Carious teeth, Eruption failure, Decreased body weight, Hypoplasia of ...	OMIM:182250
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin	ORPHA:73223
Peters-Plus Syndrome	Micrognathia, Hypoplasia of the maxilla, Agenesis of maxillary lateral incisor, Conical incisor, ...	OMIM:261540
Primrose Syndrome	Hypoplasia of the maxilla, Wide nasal bridge, Truncal obesity, Malar flattening, Increased size o...	OMIM:259050
Craniofacial Microsomia 1	Hypoplasia of the maxilla, Malar flattening, Maxillozygomatic hypoplasia, Micrognathia	OMIM:164210
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla	OMIM:300106
Holoprosencephaly 2	Malar flattening, Aplasia of the premaxilla	OMIM:157170

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
Testes - lipid deposition	Abhd5^{tm1a(KOMP)Wtsi}	HOM		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 Abhd5.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Abhd5^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Abhd5^{tm1a(KOMP)Wtsi}	PMC6459510
A gene expression resource generated by genome-wide lacZ profiling in the mouse.	Disease models & mechanisms (August 2015)	Abhd5^{tm1a(KOMP)Wtsi}	PMC4631787

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Abhd5^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Abhd5^{tm41670(pL1L2_frt_BetactP_neo_frt_lox)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Abhd5^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Abhd5 MGI:1914719

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

Legacy Phenotype Associated Images

Human diseases caused by Abhd5 mutations

Histopathology

IMPC related publications

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