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Gene: Cyp7a1 MGI:106091

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Gene Summary

Name:
cytochrome P450, family 7, subfamily a, polypeptide 1
Synonyms:
cholesterol 7 alpha hydroxylase

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
decreased circulating iron level Cyp7a1tm1b(EUCOMM)Wtsi HOM Early adult 3.35×10-06
abnormal vitreous body morphology Cyp7a1tm1b(EUCOMM)Wtsi HOM   Early adult 4.21×10-05
increased circulating unsaturated transferrin level Cyp7a1tm1b(EUCOMM)Wtsi HOM Early adult 3.90×10-08
decreased blood urea nitrogen level Cyp7a1tm1b(EUCOMM)Wtsi HOM Early adult 1.41×10-06
increased circulating bilirubin level Cyp7a1tm1b(EUCOMM)Wtsi HOM Early adult 4.81×10-06
abnormal lens morphology Cyp7a1tm1b(EUCOMM)Wtsi HOM Early adult 1.13×10-07
abnormal retina blood vessel morphology Cyp7a1tm1b(EUCOMM)Wtsi HOM Early adult 2.14×10-05
abnormal retina morphology Cyp7a1tm1b(EUCOMM)Wtsi HOM Early adult 1.04×10-08
increased circulating cholesterol level Cyp7a1tm1b(EUCOMM)Wtsi HOM Early adult 1.09×10-05
decreased exploration in new environment Cyp7a1tm1b(EUCOMM)Wtsi HOM   Early adult 1.43×10-05
abnormal retina vasculature morphology Cyp7a1tm1b(EUCOMM)Wtsi HOM Early adult 3.84×10-06
decreased circulating serum albumin level Cyp7a1tm1b(EUCOMM)Wtsi HOM Early adult 4.35×10-05
persistence of hyaloid vascular system Cyp7a1tm1b(EUCOMM)Wtsi HOM   Early adult 7.45×10-07
increased circulating HDL cholesterol level Cyp7a1tm1b(EUCOMM)Wtsi HOM Early adult 1.70×10-09
increased leukocyte cell number Cyp7a1tm1b(EUCOMM)Wtsi HOM Early adult 1.10×10-08
cataract Cyp7a1tm1b(EUCOMM)Wtsi HOM Early adult 1.53×10-07
increased circulating alkaline phosphatase level Cyp7a1tm1b(EUCOMM)Wtsi HOM Early adult 5.18×10-12
increased startle reflex Cyp7a1tm1b(EUCOMM)Wtsi HOM Early adult 4.60×10-06

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Electrocardiogram (ECG)

Waveform Image

38 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Cyp7a1 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.

The table below shows human diseases associated to Cyp7a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902

The table below shows human diseases predicted to be associated to Cyp7a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Malaria
Elevated circulating C-reactive protein concentration, Anemia, Cognitive impairment, Hyperbilirub... ORPHA:673
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatic fibrosis, Vomiting, Elevated gamma-glutamyltransferase level, Hepa... OMIM:278000
Ulerythema Ophryogenesis
Miscarriage, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Sparse ... ORPHA:3406
Crigler-Najjar Syndrome Type 1
Tremor, Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, D... OMIM:212360
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia OMIM:144300
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Neonatal hyperbilirubinemia, Retinal degeneration ORPHA:3363
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Bile Acid Synthesis Defect, Congenital, 6
Ataxia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating alani... OMIM:617308
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Abnormal eyelid morphology, Splenomegaly, Erythema, Skin ulcer, Hyperkera... ORPHA:2584
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Tremor, Dementia, Hypoalbuminemia, Cognitive ... OMIM:208920
Alg6-Cdg
Rod-cone dystrophy, Hypoalbuminemia, Decreased LDL cholesterol concentration, Retinal degeneration ORPHA:79320
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Diminished ability to concentrate, Attention deficit hyperactivity disorder OMIM:301033
Primary Membranoproliferative Glomerulonephritis
Drusen, Hypoalbuminemia ORPHA:54370
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Dia... ORPHA:71
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Diarrhea, Death in childhood, Hepatic fibrosis, Vomiting, Cirrhosi... OMIM:602579
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Tremor, Elevated circulating phytanic acid concentration, Depression, Pigmentary retino... OMIM:614307
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Di... OMIM:235555
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Rotor Syndrome
Conjugated hyperbilirubinemia, Conjunctival icterus, Hyperbilirubinemia ORPHA:3111
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia OMIM:613752
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia, Splen... OMIM:620010
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse ... OMIM:607626
Acquired Ichthyosis
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis, Dry skin ORPHA:454
Sjögren-Larsson Syndrome
Myopia, Short stature, Erythema, Photophobia, Hyperkeratosis, Ichthyosis, Dry skin ORPHA:816
Ataxia-Photosensitivity-Short Stature Syndrome
Ataxia, Short stature, Gait disturbance, High palate, Cognitive impairment, Dry skin ORPHA:1184
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption OMIM:613291
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Unsteady gait, Cutis laxa, Absent pubic hair, Alopec... ORPHA:2269
Erythrokeratodermia Variabilis
Alopecia, Short stature, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, ... ORPHA:317
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Short stature, Steatorrhea OMIM:618752
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Cognitive impairment, Dyst... OMIM:616267
Pancreatic Colipase Deficiency
Chronic diarrhea, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreat... ORPHA:309108
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Leopard Syndrome 3
Curly hair, Short stature, Epidermal hyperkeratosis, Low posterior hairline, Growth delay, Hyperk... OMIM:613707
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... OMIM:237800
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Epicanthus, Death in infancy, Splenomegaly, Chronic ... OMIM:614576
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Visual loss, Cutis laxa, Hyperkeratosis, Ichthyosis, Dysphagia, Dr... OMIM:612379
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis OMIM:617574
Parana Hard Skin Syndrome
Short stature, Thickened skin, Growth delay, Hyperkeratosis, Generalized hirsutism ORPHA:2812
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, High myopia, Growth delay, Hyperkeratosis, Photophobia, Death in childhood, Scaling ski... OMIM:614457
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism, Delayed puberty ORPHA:2297
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Photophobia, Dystr... OMIM:308800
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Isolated Sedoheptulokinase Deficiency
Short stature, Portal hypertension, Hepatitis, Cholestasis, Shallow orbits, Severe postnatal grow... ORPHA:440713
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... OMIM:246700
Wolman Disease
Hepatomegaly, Splenomegaly, Esophageal varix, Growth delay, Steatorrhea, Hepatic failure ORPHA:75233
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Hypoalbuminemia, Microcytic anemia OMIM:618805
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia OMIM:179700
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... ORPHA:64753
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Alopecia, Ataxia, Short stature, Celiac disease, Postnatal growth ... OMIM:212750
Diarrhea 13
Hypoalbuminemia OMIM:620357
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Generalized keratosis follicularis, Cle... ORPHA:2890
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Trichohepatoneurodevelopmental Syndrome
Cerebral visual impairment, Synophrys, Coarse hair, High palate, Gastroesophageal reflux, Thoraci... OMIM:618268
Schopf-Schulz-Passarge Syndrome
Multiple eyelid margin cysts, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Sparse ha... OMIM:224750
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Palm... ORPHA:530838
Lamellar Ichthyosis
Short stature, Lack of skin elasticity, Hyperkeratosis, Cognitive impairment, Ichthyosis, Sparse ... ORPHA:313
Phenylketonuria
Fair hair, Reduced phenylalanine hydroxylase level, Depression, Irritability, Attention deficit h... OMIM:261600
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Ataxia, Elevated circulating aspartate aminotransferase concentration, Elev... OMIM:615558
Abetalipoproteinemia
Dysmetria, Gait ataxia, Steppage gait, Hepatic fibrosis, Vomiting, Hypocholesterolemia, Hepatic s... ORPHA:14
Aceruloplasminemia
Torticollis, Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminem... OMIM:604290
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Confusion, T... ORPHA:247585
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... OMIM:615237
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin, Attention deficit hyperactivity disorder, Ichthyosis ORPHA:461
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... OMIM:616050
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis OMIM:101900
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse... OMIM:610768
Ceroid Lipofuscinosis, Neuronal, 3
Psychomotor deterioration, Cataract, Vacuolated lymphocytes, Optic atrophy, Macular degeneration,... OMIM:204200
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin, Ichthyosis ORPHA:2271
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia, Histiocy... OMIM:209950
Tooth Agenesis, Selective, 8
Sparse eyebrow, Dry skin, Sparse hair OMIM:617073
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption,... OMIM:557000
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis ORPHA:69125
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Retinal dystrophy, Tremor,... ORPHA:713
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder, Hyperammonemia, Increased C-pepti... OMIM:620211
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Splenomegaly, Jaundice, Steatorrhea, Exocrine pancreatic insufficiency OMIM:612714
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Death in infancy, Ataxia, Almond-sh... OMIM:212065
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Ataxia, Steatorrhea, Hypocholesterolemia OMIM:266510
Night Blindness, Congenital Stationary, Type 1C
Congenital stationary night blindness, Myopia, Dry skin, Reduced visual acuity OMIM:613216
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Constriction of peripheral visual field, Ataxia, Xerostomia, Reduced visual acuity... OMIM:618527
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Tangier Disease
Hepatomegaly, Hypertriglyceridemia, Cicatricial ectropion, Splenomegaly, Nail dystrophy, Dry skin... OMIM:205400
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Corneal arcus, Cataract OMIM:618463
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma OMIM:244850
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... OMIM:616828
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninem... OMIM:204000
Hijazi-Reis Syndrome
Astigmatism, Iris coloboma, Hyperbilirubinemia OMIM:301094
Galactokinase Deficiency
Psychomotor deterioration, Cataract, Hepatosplenomegaly, Increased level of galactitol in plasma,... ORPHA:79237
Ichthyosis Vulgaris
Dry skin, Ichthyosis OMIM:146700
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Severe short stature, Malabsorption, Thickened skin, C... ORPHA:2176
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Thyrotropin-Releasing Hormone Deficiency
Dry skin, Constipation, Short stature OMIM:275120
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Erythema, Low anterior hairline, Hirsutism, Skin ulcer, Hyperkeratosi... ORPHA:742
Dermoodontodysplasia
Sparse scalp hair, Abnormal eyelid morphology, Thin skin, Trichodysplasia, Dry skin, Sparse body ... ORPHA:1660
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Inability to walk, Dry skin, High palate, Follicular hyperkeratosis OMIM:617066
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Elevated circulating creatine kinase concentration OMIM:609115
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Photophobia, Palmoplantar keratoderma, Sp... OMIM:618535
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... OMIM:603553
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis ORPHA:735
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... ORPHA:507
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ichthyosis, Co... OMIM:612281
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Psychomotor deterioration, Fatal liver failure in infancy, Hypertr... ORPHA:275761
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Gastroesophageal reflux, High palate, Follicular hyperkeratosis, Delayed puberty, Dry skin ORPHA:486815
Trichothiodystrophy 1, Photosensitive
Death in infancy, Intestinal obstruction, Brittle hair, Short stature, Trichoschisis, Malabsorpti... OMIM:601675
Pancreatic Lipase Deficiency
Fat malabsorption, Hypocholesterolemia, Steatorrhea OMIM:614338
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Dermoodontodysplasia
Dry skin, Thin skin, Trichodysplasia OMIM:125640
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... OMIM:242150
Congenital Heart Defects And Ectodermal Dysplasia
Medial flaring of the eyebrow, Sparse scalp hair, Thin skin, Attention deficit hyperactivity diso... OMIM:617364
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Diarrhea, Dysphagia, Hematochezia, Vomi... ORPHA:2070
Radio-Tartaglia Syndrome
High, narrow palate, Synophrys, Low anterior hairline, High palate, Gastroesophageal reflux, Atax... OMIM:619312
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Shwachman-Diamond Syndrome 2
Hepatomegaly, Death in infancy, Short stature, Diarrhea, Steatorrhea, High myopia, Death in child... OMIM:617941
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Severe short stature, Congenital pyloric atresia, Low posterior hairline,... ORPHA:2617
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi... OMIM:241600
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Perianal erythema, Ataxia, Short stature, Splenomegaly, Diarrhea, Low alkaline phos... OMIM:201100
Cardiofaciocutaneous Syndrome
Brittle hair, Redundant skin, Abnormality of vision, High palate, Sparse hair, Dystrophic fingern... ORPHA:1340
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Squalene Synthase Deficiency
Epicanthus, Cerebral visual impairment, Abnormality of hair pigmentation, Irritability, Constipat... OMIM:618156
Rhizomelic Chondrodysplasia Punctata
Epicanthus, Alopecia, Rhizomelia, Short stature, Growth delay, Ichthyosis, Dry skin, Sparse body ... ORPHA:177
Dermatitis, Atopic
Facial erythema, Conjunctivitis, Pallor, Ichthyosis, Dry skin OMIM:603165
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Bile Acid Synthesis Defect, Congenital, 5
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... OMIM:616278
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Trichothiodystrophy 6, Nonphotosensitive
Broad-based gait, Brittle hair, Short stature, Slow-growing hair, Mild intrauterine growth retard... OMIM:616943
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Huriez Syndrome
Dry skin, Lack of skin elasticity, Sclerodactyly, Palmoplantar keratoderma ORPHA:384
Hepatic Lipase Deficiency
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Excessive skin wrinkling on dorsum of hands and fingers, Palmoplan... ORPHA:498359
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia OMIM:619013
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Postural tremor, Optic atrophy, Abnormal circulating cholesterol concentration, Cogniti... OMIM:270800
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158061
Flynn-Aird Syndrome
Myopia, Alopecia, Ataxia, Hyperkeratosis, Dementia, Alopecia of scalp OMIM:136300
Ddost-Cdg
Elevated hepatic transaminase, Short stature, Gastroesophageal reflux, Constipation, Dry skin, He... ORPHA:300536
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... ORPHA:254704
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy OMIM:615995
Hepatoportal Sclerosis
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Cognitive impairment,... ORPHA:64743
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Sézary Syndrome
Hepatomegaly, Alopecia, Splenomegaly, Palmoplantar keratoderma, Nail dystrophy, Dry skin, Ectropion ORPHA:3162
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna... ORPHA:529799
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia OMIM:612526
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Splenomegaly, Palmoplantar hyperkeratosis, Growth delay, Photophobia, Keratoconjunc... OMIM:617388
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Acrodermatitis Enteropathica
Glossitis, Abnormal eyebrow morphology, Alopecia, Short stature, Abnormal eyelid morphology, Mala... ORPHA:37
Leopard Syndrome 2
Curly hair, Epicanthus, Short stature, Webbed neck, Dry skin, Downslanted palpebral fissures OMIM:611554
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Ataxia, Short stature, Postnatal growth retardation, Dysmetria... OMIM:616263
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Leukoencephalopathy With Vanishing White Matter 2
Memory impairment, Cataract, Optic atrophy OMIM:620312
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Dystonia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Depression, Hyperuricemia, Cognitive impairment, Memory impairment, Action ... ORPHA:77296
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Short stature, Malabsorption, Sparse eyebrow, Abnormal hair ... ORPHA:634
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Growth delay, Macroglossia, Constipation, Dry skin OMIM:614450
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin OMIM:129490
Odontoonychodermal Dysplasia
Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Short nail, Hypergranulosis, Sparse eyebrow,... OMIM:257980
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Trichorrhexis nodosa, Xerostomia, Hyperkeratosis, Kera... ORPHA:238468
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Congenital Enterovirus Infection
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Irritability, Leu... ORPHA:292
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbullous icht... OMIM:617571
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Necr... ORPHA:97280
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Glycogen Storage Disease Ixa1
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Keratoderma Hereditarium Mutilans With Ichthyosis
Scaling skin on fingertip, Parakeratosis, Alopecia, Hypergranulosis, Honeycomb palmoplantar hyper... ORPHA:79395
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Elevated hepatic transaminase, Short stature, Acanthosis nigricans, Sparse hair, Dry skin OMIM:268020
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia OMIM:214900
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Reni Syndrome
Mental deterioration, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Acanthosis nigricans, Dry skin, Short stature, Visual impairment ORPHA:3085
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
Maternally-Inherited Diabetes And Deafness
Cataract, Abnormal chorioretinal morphology, Macular dystrophy, Abnormal circulating lipid concen... ORPHA:225
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,... OMIM:613471
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Elbow hypertrichosis, Epicanthus, Ataxia, Hypermetropia, High palate, Long eyelashes, Dry skin, D... OMIM:620191
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of... ORPHA:90368
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Refsum Disease
Ataxia, Splenomegaly, Nyctalopia, Abnormality of vision, Progressive visual loss, Ichthyosis, Dry... ORPHA:773
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Short stature, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair OMIM:618625
Cholesteryl Ester Storage Disease
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin OMIM:617920
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Nail dystrophy, Ichthyosis ORPHA:79503
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
S-Adenosylhomocysteine Hydrolase Deficiency
Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho... ORPHA:88618
Rapp-Hodgkin Syndrome
Absent lacrimal punctum, Decreased number of sweat glands, Sparse eyelashes, Short stature, Super... OMIM:129400
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Sp... OMIM:259720
Lichen Planopilaris
Alopecia, Hepatitis, Skin ulcer, Hyperkeratosis, Abnormal intestine morphology, Pterygium ORPHA:525
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne... OMIM:618892
Combined Oxidative Phosphorylation Deficiency 37
Progressive neurologic deterioration, Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbumin... OMIM:618329
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy, Depression, Dementia, Cognitive impairment ORPHA:329314
Smith-Magenis Syndrome
Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Asplenia, Hepatitis, Chronic hepatitis, Keratoconjunctivitis, Cirrhosis, Steatorrhea, E... OMIM:269200
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment, Cataract, Elevated circulating creatine kinase concen... OMIM:615181
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis ORPHA:505
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Noonan Syndrome 13
Epicanthus, Highly arched eyebrow, Almond-shaped palpebral fissure, Hypertrichosis, Low posterior... OMIM:619087
Noonan Syndrome 5
Curly hair, Epicanthus, Short stature, Sparse eyebrow, Fine hair, Webbed neck, Dry skin, Downslan... OMIM:611553
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Hypophosphatemia, Mental deterioration, Retinopathy, Iris c... ORPHA:2611
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, ... OMIM:605676
Distal Duplication 6P
Abnormal hair quantity, Short stature, Abnormal eyelash morphology, Fine hair, Blepharophimosis, ... ORPHA:1745
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Tremor, Increased total iron binding capacity, Unconjugated hyperbilirubinemia... OMIM:613280
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Ptosis, Median cleft lip and palate, Pancreatic fibr... ORPHA:699
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... ORPHA:1667
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... OMIM:617021
Liver Failure, Infantile, Transient
Irritability, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Riddle Syndrome
Dry skin, Ataxia, Short stature OMIM:611943
Congenital Disorder Of Glycosylation, Type If
Death in infancy, Ataxia, Hyperkeratosis, Scaling skin, Dry skin OMIM:609180
Lipoid Proteinosis Of Urbach And Wiethe
Memory impairment, Hyperkeratosis, Patchy alopecia, Thickened skin OMIM:247100
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Thyroid Dyshormonogenesis 1
Growth delay, Macroglossia, Constipation, Lethargy, Dry skin OMIM:274400
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Corneal arcus, Xanthelasma OMIM:603776
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Morm Syndrome
Cataract, Retinal dystrophy, Retinal atrophy ORPHA:75858
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperkeratosis, Dystrophic toenail, Palmoplantar hyperkeratosis ORPHA:89838
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Elevated circulating creatine kinase concentration, Tremor, Depression, Pigmentary reti... ORPHA:79095
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Intr... ORPHA:97283
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Scaling skin, Fo... OMIM:616295
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Optic atrophy, Chorioretinal atrophy, Hepatosplenomegaly, Irritability, Hypoalb... OMIM:619487
Xfe Progeroid Syndrome
Optic atrophy, Hypoalbuminemia, Corneal scarring, Attenuation of retinal blood vessels OMIM:610965
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Mucopolysaccharidosis-Plus Syndrome
Thrombocytopenia, Splenomegaly, Optic atrophy, Leukopenia, Chorioretinal hypopigmentation, Hypoal... OMIM:617303
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Hyp... ORPHA:414
Spinocerebellar Ataxia Type 34
Progressive cerebellar ataxia, Dysdiadochokinesis, Dry skin, Gait disturbance ORPHA:1955
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Malabsorption, Chronic diarrhea, Steatorrhea, Ptosis ORPHA:3217
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Sparse eyebrow, Dry skin, Long palpebral fissure OMIM:600906
Irida Syndrome
Intrahepatic cholestasis, Hyperkeratosis, Abnormal intestine morphology, Pallor, Ichthyosis ORPHA:209981
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes OMIM:269920
Primary Intestinal Lymphangiectasia
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... ORPHA:90362
Agel Amyloidosis
Deficit in phonologic short-term memory, Tongue atrophy, Ataxia, Bilateral ptosis, Xerostomia, Cu... ORPHA:85448
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia OMIM:608104
Aceruloplasminemia
Refractory anemia, Abnormality of retinal pigmentation, Torticollis, Decreased circulating cerulo... ORPHA:48818
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Short stature, Steatorrhea, Exocrine pancreatic insu... OMIM:260400
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Dry skin, Downslanted palpebral fissures, Short stature ORPHA:1035
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Congenital bullous ichthyosifor... ORPHA:312
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:247353
Shwachman-Diamond Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormality of the gastrointestinal tract, Short att... ORPHA:811
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis, Dry skin, Scaling skin OMIM:618084
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... OMIM:614480
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... OMIM:232800
Atelis Syndrome 1
High palate, Dry skin, Downslanted palpebral fissures, Attention deficit hyperactivity disorder OMIM:620184
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Entropion, Short stature, Trichiasis, Cleft palate, Narrow palpebral fissure, Hyp... OMIM:601701
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Irritability, Hyperbilirubinemia, Opisthotonus OMIM:619685
Cog4-Cdg
Hypercholesterolemia, Irritability, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Proteus Syndrome
Splenomegaly, Hyperkeratosis, Limbal dermoid, Downslanted palpebral fissures, Ptosis OMIM:176920
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Corneal erosion, Depression, Anemia, Decreased serum zinc, Hypoalbuminemia,... ORPHA:89842
Aicardi-Goutieres Syndrome 5
Irritability, Dry skin, Scaling skin OMIM:612952
Wilson Disease
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Trem... OMIM:277900
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Almond-shaped palpebral fissure, Abnormal hair whorl, Synophrys, Low posterior hairline, Upslante... OMIM:300860
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, High palate, Attention deficit hyperactivity... OMIM:619075
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma OMIM:144010
Xeroderma Pigmentosum
Conjunctival telangiectasia, Alopecia, Entropion, Ataxia, Short stature, Thickened skin, Erythema... ORPHA:910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration... OMIM:613153
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... ORPHA:540
Lysinuric Protein Intolerance
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating lactate ... ORPHA:470
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
Omenn Syndrome
Hepatomegaly, Alopecia, Splenomegaly, Thickened skin, Chronic diarrhea, Dry skin, Aplasia/Hypopla... ORPHA:39041
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Familial Melanoma
Neoplasm of the pancreas, Dry skin, Abnormal hair morphology, Neoplasm of the stomach ORPHA:618
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Alopecia, Dry skin, Fine hair ORPHA:248
Alg11-Cdg
Elevated hepatic transaminase, Ataxia, Abnormality of vision, Dry skin, Episodic vomiting ORPHA:280071
Lissencephaly 8
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:617255
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Dry skin, Severe postnatal growth retardation OMIM:275100
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Alopecia, Short stature ORPHA:2574
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sparse hair,... OMIM:607903
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Scarring alopecia of scalp... OMIM:602540
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... OMIM:300908
Den Hoed-De Boer-Voisin Syndrome
Lactose intolerance, Short attention span, Ataxia, Inability to walk, Widow's peak, Hypermetropia... OMIM:619229
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:612653
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Koolen-De Vries Syndrome
Epicanthus, Hypopigmentation of hair, Short stature, Abnormality of hair texture, High, narrow pa... ORPHA:96169
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyelashes, Short stature, Blepharophimosis, Sparse eyebrow, Postnatal growth retardation, ... OMIM:613026
Keratoderma Hereditarium Mutilans
Alopecia, Cleft palate, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Cognitive impairme... ORPHA:494
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Smith-Magenis Syndrome
Retinal detachment, Hypertriglyceridemia, Microcornea, Attention deficit hyperactivity disorder, ... ORPHA:819
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hyperkeratosis, Plantar hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis ORPHA:79399
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:616649
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Intention tremor, Normochromic anemia, Hypoalbuminemia, Mental deterioration, Th... OMIM:254900
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin, Fine hair ORPHA:1028
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Muscle-Eye-Brain Disease
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration, Cognitive impairment ORPHA:588
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hyperlipidemia, Growth delay, Irritab... ORPHA:369
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Prune1-Related Neurological Syndrome
Retinopathy, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration ORPHA:544469
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... OMIM:235700
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Galloway-Mowat Syndrome 1
Cataract, Optic atrophy, Hypoplasia of the iris, Hypoalbuminemia, Opacification of the corneal st... OMIM:251300
Bathing Suit Ichthyosis
Parakeratosis, Alopecia, Thickened skin, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, ... ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Hypergranulosis, Abnormal hair morphology, Erythema, Growth delay, Hyperkeratosis, Cong... OMIM:242100
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Growth delay, Hemeralopia, Keratoconjunctivitis sicca, Colitis, Steatorrhea, Exocrine p... ORPHA:309031
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Entropion, Aca... ORPHA:537
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia OMIM:226300
Superficial Epidermolytic Ichthyosis
Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis ORPHA:455
Atrophoderma Vermiculata
Hyperkeratotic papule, Erythema, Follicular hyperkeratosis ORPHA:79100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract, Elevated circulating creatine kinase concentration OMIM:615352
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Hereditary Sensory And Autonomic Neuropathy Type 1
Inability to walk, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Steppage gait, Gastroesop... ORPHA:36386
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:182900
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Nyctalopia, Follicular hyperkeratosis, Bitot spots of the conjunctiva OMIM:277350
Cystic Fibrosis
Elevated hepatic transaminase, Meconium ileus, Malabsorption, Rectal prolapse, Depression, Abnorm... ORPHA:586
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Fine hair, Growth delay, Sparse or absent eyelashes, Thin skin, Sparse hair... ORPHA:217346
Palmoplantar Keratoderma And Congenital Alopecia 1
Plantar hyperkeratosis, Alopecia, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S... OMIM:224120
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Noonan Syndrome 8
Curly hair, Epicanthus, Short stature, Hyperkeratosis, Webbed neck, Palmoplantar cutis laxa, Down... OMIM:615355
Classic Phenylketonuria
Cataract, Tremor, Depression, Attention deficit hyperactivity disorder, Hyperphenylalaninemia, Me... ORPHA:79254
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Trichorrhexis nodosa, Facial... ORPHA:1010
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy... OMIM:300918
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy OMIM:131850
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Dry skin, Constipation, Prolonged neonatal jaundice ORPHA:95715
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Epicanthus, Supernumerary nipple, Abnormal eyelid morphology, Cleft palate, Fine hair, Gait distu... ORPHA:1812
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... ORPHA:2199
Adiposis Dolorosa
Sparse axillary hair, Sparse pubic hair, Diarrhea, Xerostomia, Depression, Constipation, Memory i... ORPHA:36397
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Blindness, Brittle hair, Short stature, Fine hair, Hyperkeratosis, Pili torti ORPHA:1573
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... ORPHA:288
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Photophobia, Hyperke... OMIM:602400
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital b... OMIM:607602
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Photophobia, Short eyelashes, Thin skin, Palmar hyperkeratosis... OMIM:150400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Elevated circulating creat... OMIM:614643
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Eosinophilic infiltration of the esophagus, Malabsorption, Acantholysis,... OMIM:615508
Metachromatic Leukodystrophy
Ataxia, Reduced leukocyte arylsulfatase A activity, Gallbladder dysfunction, Gait disturbance, Ch... OMIM:250100
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Short stature, High palate, Acanthosis nigricans, Dry skin, Hypertrichosis OMIM:262190
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Coloboma, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Stickler Syndrome, Type V
Retinal detachment, Cataract, Vitreoretinopathy OMIM:614284
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Grubben-De Cock-Borghgraef Syndrome
Dry skin ORPHA:2101
Alg12-Cdg
Hyponatremia, Retinal detachment, Hypoalbuminemia, B lymphocytopenia, Hypocholesterolemia, Thromb... ORPHA:79324
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Bacterial Toxic-Shock Syndrome
Confusion, Elevated circulating creatine kinase concentration, Abscess, Elevated circulating crea... ORPHA:36234
9P13 Microdeletion Syndrome
Epicanthus, Short stature, Highly arched eyebrow, Hypermetropia, High palate, Attention deficit h... ORPHA:324313
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Elevated transferrin saturation, Cataract, Anemia OMIM:606069
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Alopecia, Alopecia of scalp, Palmoplantar keratoderma, Scaling skin,... OMIM:618373
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Nyctalopia, Reduced visual acuity, Follicular hyperkeratosis, Tritanomaly, Visual impairment OMIM:615147
Noonan Syndrome 14
Curly hair, Epicanthus, Lacrimal duct stenosis, Short stature, Sparse eyebrow, High, narrow palat... OMIM:619745
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Rectal prolapse, Diarrhea, Ileus, Biliary cirrhosis, Hepatosplenome... OMIM:219700
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Dystonia, Hypercholes... OMIM:277460
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Bazex Syndrome
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrop... ORPHA:166113
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Nuclear ca... OMIM:608885
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... OMIM:251880
Bardet-Biedl Syndrome 20
Papilledema, Astigmatism, Retinal vascular tortuosity, Hypercholesterolemia, Rod-cone dystrophy OMIM:619471
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Akinesia, Progressive neurologic deterioration, Splenomegaly, Hepatosplenomegaly, H... OMIM:608013
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia ORPHA:67
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Growth delay, Macroglossia, Constipation, Attention deficit hyperactivity disorder, P... ORPHA:90674
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, I... OMIM:615821
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Telecanthus, Ptosis, Epicanthus, Elevated circulating aspartate aminotransferase co... OMIM:280000
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Dry skin, Constipation, Prolonged neonatal jaundice ORPHA:226313
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Normocytic anemia, Progressive neurologic deterioration, Abnormal retin... ORPHA:247691
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Leukocytosis, Memory impairment, Cognitive impairment, Hype... ORPHA:90065
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Steatorrhea OMIM:615935
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Entropion, Aca... ORPHA:36426
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... OMIM:212050
Dubowitz Syndrome
Ptosis, Epicanthus, Telecanthus, Anal stenosis, Short stature, Myopia, Malabsorption, Postnatal g... ORPHA:235
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Ani... OMIM:616959
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ichthyosis, Orthokeratosis OMIM:607936
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Acantholysis, Cholestasis, Conjunctivitis, Scaling skin, Skin vesi... ORPHA:293173
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Cerebral visual impairment, Protruding tongue, Low anterior hairline, Horizontal eyebrow, High an... OMIM:618797
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Thrombocytopenia, Optic atrophy, Hepatosplenomegaly, Leukope... ORPHA:505248
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Intrahepatic Cholestasis Of Pregnancy
Tremor, Increased serum bile acid concentration, Hyperbilirubinemia, Depression ORPHA:69665
Ectodermal Dysplasia-Blindness Syndrome
Blindness, Short stature, Skin ulcer, Fine hair, Abnormality of vision, Hyperkeratosis, Keratocon... ORPHA:1806
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Hatipoglu Immunodeficiency Syndrome
Fair hair, Proportionate short stature, Thickened skin, Premature graying of hair, Intrauterine g... OMIM:620331
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... OMIM:601813
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
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Decreased number of sweat glands, Punctate palmoplantar hyperkeratosis,... ORPHA:69087
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Recon Progeroid Syndrome
Short stature, Absent lower eyelashes, Growth delay, Keratoconjunctivitis sicca, Scaling skin, Th... OMIM:620370
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Hypoparathyroidism, Familial Isolated, 1
Cataract, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Megalocornea, Abnormal a... ORPHA:2479
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Diarrhea, Intermittent jaund... OMIM:601847
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... OMIM:606545
Xeroderma Pigmentosum Variant
Photophobia, Dry skin ORPHA:90342
Chilblain Lupus
Hyperkeratosis, Skin ulcer ORPHA:90280
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatosplenomegaly ORPHA:367
Hemochromatosis, Type 2B
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... OMIM:613313
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Myopia, Epicanthus, Severe short stature, Abnormal nasolacrimal system morphology, ... ORPHA:2526
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Brittle hair, Gastritis, Short stature, Hypopigmentation of hair, ... ORPHA:84064
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Cataract, Elevated circulating creatine kinase concentration, Retinal degeneration OMIM:615249
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Laron Syndrome
Hypercholesterolemia ORPHA:633
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... ORPHA:2334
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
Costello Syndrome
Epicanthus, Short stature, Redundant skin, Abnormal hair morphology, Lack of skin elasticity, Nar... ORPHA:3071
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Refsum Disease, Classic
Rod-cone dystrophy, Cataract, Elevated circulating phytanic acid concentration, Retinal degeneration OMIM:266500
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo... ORPHA:37042
Cln3 Disease
Cataract, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Depression, Pigmentary r... ORPHA:228346
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Growth delay, Prolonged neonatal jaundice, Lethargy, Dry skin ORPHA:99832
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Xerostomia,... OMIM:614941
Bone Marrow Failure Syndrome 4
Rhizomelia, Dry skin, Short stature OMIM:618116
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis, Conjunctivitis, Blepharitis ORPHA:254478
Cinca Syndrome
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H... OMIM:607115
Koolen-De Vries Syndrome
Epicanthus, Fair hair, Short stature, Abnormality of hair texture, Pyloric stenosis, Cleft palate... OMIM:610443
Autoimmune Hypoparathyroidism
Cataract, Confusion, Depression, Irritability, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, H... ORPHA:36913
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Conjugated hyperbilirubinemia, Brushfield spots, Splenomegaly, Optic nerve dysplasia, E... OMIM:614866
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Eec Syndrome
Entropion, Short stature, Slow-growing hair, Sparse eyebrow, Xerostomia, Cleft palate, Fine hair,... ORPHA:1896
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Glycogen Storage Disease Xii
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic... OMIM:611881
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Mednik Syndrome
Hyperkeratosis, Intrahepatic cholestasis, Abnormal intestine morphology, Ichthyosis ORPHA:171851
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Cognitive im... OMIM:222470
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy OMIM:604278
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Short stature, Sparse eyebrow, Splenomegaly, Nasolacrimal duct obstructio... OMIM:604173
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i... OMIM:167800
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Parakeratosis, Psoriasiform lesion, Abnormal lactate dehydrogenase... ORPHA:284426
Infantile Refsum Disease
Optic atrophy, Rod-cone dystrophy, Cataract, Elevated circulating phytanic acid concentration ORPHA:772
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620157
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Short stature, Hyperkeratosis, Coarse hair, Cognitive impairment, Sparse hair ORPHA:1883
Jung Syndrome
Telecanthus, Dry skin, Low posterior hairline ORPHA:2321
Sapho Syndrome
Psoriasiform dermatitis, Malabsorption, Chronic diarrhea, Inflammation of the large intestine, St... ORPHA:793
Cranioectodermal Dysplasia 3
Telecanthus, Short stature, Rhizomelia, Short nail, Cutis laxa, Fine hair, Cirrhosis, Sparse hair... OMIM:614099
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Low anterior hairline, Hirsutism, High palate, Woolly hair, Dry skin, Broa... OMIM:619244
Autosomal Recessive Stickler Syndrome
Retinal detachment, Vitreoretinopathy, Cataract, Astigmatism ORPHA:250984
Syndromic Recessive X-Linked Ichthyosis
Short stature, Abnormal stomach morphology, Hyperkeratosis, Attention deficit hyperactivity disor... ORPHA:281090
Fucosidosis
Hepatomegaly, Thick eyebrow, Short stature, Splenomegaly, Tortuosity of conjunctival vessels, Mac... OMIM:230000
Septo-Optic Dysplasia Spectrum
Short stature, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Constipation, Dry ski... ORPHA:3157
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia ORPHA:542323
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short attention span, Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder ORPHA:73272
Neuhauser Syndrome
Hypoplasia of the iris, Hypercholesterolemia, Megalocornea, Iridodonesis OMIM:249310
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Hyperbilirubinemia OMIM:609734
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Ablepharon Macrostomia Syndrome
Absent eyebrow, Ablepharon, Myopia, Redundant skin, Abnormal hair pattern, Absent eyelashes, Brea... ORPHA:920
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Elevated circulating creatine kinase concentration, Elevated circulating long chain fat... OMIM:608836
Galactose Mutarotase Deficiency
Cataract, Hypergalactosemia ORPHA:570422
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Myopia, Follicular hyperkeratosis ORPHA:300179
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Photophobia, Scaling skin, Atrichia, Death in childhood, Neonatal death,... OMIM:308205
Donohue Syndrome
Postnatal growth retardation, Cholestasis, Hyperkeratosis, Hepatic fibrosis, Pancreatic islet-cel... OMIM:246200
Fumarase Deficiency
Conjunctival icterus, Optic atrophy, Polycythemia, Hyperbilirubinemia OMIM:606812
Late-Onset Isolated Acth Deficiency
Decreased circulating cortisol level, Celiac disease, Diarrhea, Hepatitis, Constipation, Lethargy... ORPHA:199299
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... OMIM:618546
Sialidosis Type 1
Short stature, Ataxia, Splenomegaly, Hyperkeratosis, Gait disturbance, Progressive visual loss, V... ORPHA:812
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Elevated circulating creatine kinase concentration, Optic nerve hyp... ORPHA:370959
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Hepatomegaly, Cerebral visual impairment ORPHA:79279
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Cataract, Elevated circulating creatine kinase ... OMIM:253800
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Alopecia, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Nail... OMIM:242300
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... ORPHA:79151
Intellectual Developmental Disorder, Autosomal Dominant 54
Ataxia, Short stature, Inability to walk, Gastrointestinal dysmotility, Growth delay, Chronic con... OMIM:617799
Trichothiodystrophy
Myopia, Epicanthus, Brittle hair, Sparse scalp hair, High, narrow palate, Gait ataxia, Photophobi... ORPHA:33364
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hyperbilirubinemia OMIM:214950
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Posterior embryotoxon, Increased circulating very long-chain fatty... OMIM:614887
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Hereditary Mucoepithelial Dysplasia
Alopecia, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, Photophobia, Hyperkerato... ORPHA:1839
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Cardiofaciocutaneous Syndrome 1
Cerebral visual impairment, Vomiting, High palate, Gastroesophageal reflux, Sparse hair, Absent e... OMIM:115150
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Cataract, Elevated circulating phytanic acid concentration OMIM:614879
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Lathosterolosis
Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He... OMIM:607330
Sheehan Syndrome
Decreased circulating cortisol level, Sparse axillary hair, Sparse pubic hair, Diplopia, Progress... ORPHA:91355
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifor... OMIM:613576
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Erythema, Furrowed tongue, Nail dystrophy, G... OMIM:614204
Walker-Warburg Syndrome
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Retinal dystrophy, Optic ... ORPHA:899
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Parakeratosis, Splenomegaly, Cholestasis, Hyperkerat... ORPHA:398124
Isolated Atp Synthase Deficiency
Cataract, Optic atrophy, Hyperammonemia, Dystonia, Hyperalaninemia, Rod-cone dystrophy ORPHA:254913
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Epicanthus, Short stature, Highly arched eyebrow, Sparse eyebrow, Hypoplasia of... OMIM:618419
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Myopia, Alopecia, Severe short stature, Moderate postnatal growth retardation, Upslanted palpebra... ORPHA:1005
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder, Depression ORPHA:293939
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... ORPHA:412
Hajdu-Cheney Syndrome
Hepatomegaly, Telecanthus, Myopia, Short stature, Intestinal malrotation, Splenomegaly, Synophrys... ORPHA:955
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Disproportionate short stature, Fine hair, Narrow palpebral fissure, Attention deficit hyperactiv... ORPHA:2637
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Nasolacrimal duct obstruction, Skin ulcer, Fine hair,... ORPHA:978
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Ataxia, Short stature, Fine hair, Growth delay, Premature graying of hair, Intrauterine... OMIM:613990
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Cataract, Conjugated hyperbilirubinemia, Hepatosplenomegaly, Stomat... ORPHA:168577
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair, Short stature, Webbed neck OMIM:615279
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Dry skin, High palate OMIM:618282
Secondary Intestinal Lymphangiectasia
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... ORPHA:90363
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Erythema, Scaling skin, Skin vesicle ORPHA:79481
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... ORPHA:131
21Q22.11Q22.12 Microdeletion Syndrome
Short stature, Almond-shaped palpebral fissure, Postnatal growth retardation, Hypoplastic nipples... ORPHA:261323
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Adult Syndrome
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nasolacrimal duct obstruction,... OMIM:103285
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Epicanthus, Telecanthus, Ataxia, Brittle hair, Hamartoma of tongue... ORPHA:2750
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Cataract, Retinal dystrophy, Elevated circulating creatine kinase concentration ORPHA:370997
Bartsocas-Papas Syndrome 1
Absent eyebrow, Ablepharon, Anal stenosis, Alopecia, Alopecia totalis, Sparse scalp hair, Cicatri... OMIM:263650
Graft Versus Host Disease
Irritability, Hemophagocytosis, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:39812
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Sparse eyelashes, Absent nipple, Absent eyelashes, Sparse eyebrow, ... OMIM:305100
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Irritability, Abnormality... ORPHA:848
Mevalonic Aciduria
Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Elevated circulating creatine kinase ... OMIM:610377
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... ORPHA:2869
Ramon Syndrome
Hyperkeratosis, Generalized hirsutism, Narrow palate ORPHA:3019
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Nail dystrophy ORPHA:89843
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Al Amyloidosis
Howell-Jolly bodies, Increased circulating NT-proBNP concentration, Hypoalbuminemia, Anemia ORPHA:85443
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Ectodermal Dysplasia/Short Stature Syndrome
Short stature, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Dy... OMIM:616029
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Tremor, Hyperammonemia, Hyperproli... ORPHA:3008
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen... OMIM:615986
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop... OMIM:148700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Irritability, ... OMIM:618278
Cystic Echinococcosis
Eosinophilia, Abscess, Hyperbilirubinemia, Splenic cyst, Peritoneal abscess ORPHA:400
Chronic Mucocutaneous Candidiasis
Erythema, Hepatitis, Skin ulcer, Abnormality of vision, Hyperkeratosis ORPHA:1334
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Retinal degeneration, Cataract OMIM:277700
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle ORPHA:158681
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... OMIM:619208
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Vitreous hemorrhage, Thrombocytopenia, Retinal hemorrhage, Hyperbilirubinemia ORPHA:464321
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Optic atrophy, Rod-cone dystrophy, Subcapsular cataract, Intention tremor OMIM:612674
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, ... ORPHA:845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Optic atrophy, Developmental cataract, Pigmen... OMIM:613154
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Nail dystrophy, Hypocholesterolemia, Dry skin, Ectropion ORPHA:31150
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Anemia, Corneal opacity ORPHA:79396
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Hypertriglyceridemia, Facial wrinkling, Diarrhea, Dysmetria, Gait ataxia, Dysd... OMIM:606721
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Visual loss, Chronic diarrhea, Photophobia, Hyperkeratosis, Colitis, Frontal upsweep of hair, Vis... OMIM:301220
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death, Alopecia totalis, Alopecia universalis, Acantholysis OMIM:609638
Hidrotic Ectodermal Dysplasia, Halal Type
Absent eyebrow, Sparse scalp hair, Supernumerary nipple, Absent eyelashes, Follicular hyperkerato... ORPHA:1809
Naxos Disease
Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... OMIM:601214
Alagille Syndrome 1
Posterior embryotoxon, Hypertriglyceridemia, Cataract, Band keratopathy, Chorioretinal atrophy, M... OMIM:118450
Rabson-Mendenhall Syndrome
Short stature, Thick hair, Low anterior hairline, Furrowed tongue, Premature graying of hair, Mac... ORPHA:769
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Blindness, Sparse eyelashes, Trichiasis, Sparse eyebrow, Furrowed tongue, Photophobia, Hyperkerat... OMIM:148210
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Death in infancy, Sparse eyelashes, Progressive neurologic deterioration, Spar... OMIM:210710
Caroli Syndrome
Liver abscess, Conjugated hyperbilirubinemia, Conjunctival icterus, Leukocytosis, Hypersplenism, ... ORPHA:480520
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract, Cognitive impairment ORPHA:3437
Immunodeficiency 55
Short stature, Postnatal growth retardation, Diarrhea, Ichthyosis, Intrauterine growth retardatio... OMIM:617827
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Irritability, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperchol... ORPHA:79240
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosi... OMIM:173200
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... OMIM:612109
Scalp-Ear-Nipple Syndrome
Epicanthus, Telecanthus, Palpebral edema, Short stature, Sparse axillary hair, Sparse pubic hair,... OMIM:181270
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myopia, Epicanthus, Curly hair, Short stature, Sparse scalp hair, Hypermetropia, Webbed neck, Hyp... OMIM:607721
Werner Syndrome
Sparse scalp hair, Short stature, Miscarriage, Abnormal hair whorl, Lack of skin elasticity, Skin... ORPHA:902
Iga Pemphigus
Skin vesicle, Ulcerative colitis, Acantholysis ORPHA:555905
Dowling-Degos Disease
Skin vesicle, Hyperkeratosis, Hyperkeratotic papule, Anal margin squamous cell carcinoma ORPHA:79145
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... ORPHA:264580
Barber-Say Syndrome
Telecanthus, Ectropion, Sparse eyelashes, Redundant skin, Absent nipple, Sparse eyebrow, Epibleph... OMIM:209885
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Leukopenia, Hypotriglyceridemia, Hypoalbuminemia, ... ORPHA:2298
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Synophrys, Facial erythema, High palate, Scaling skin, Low frustration tolerance, Thoracic hypert... OMIM:619503
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Short attention span, Torticollis, Cataract, Isometric tremor, Dystonia, Head titubation, Depress... OMIM:619475
Caroli Disease
Liver abscess, Conjugated hyperbilirubinemia, Conjunctival icterus, Leukocytosis, Splenomegaly, A... ORPHA:53035
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Malabsorption, Thickened skin, Woolly hair... ORPHA:565
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Proportionate short stature, Sparse eyebrow, High, narrow pa... OMIM:234100
Intermediate Uveitis
Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ... ORPHA:279914
Kid Syndrome
Psoriasiform dermatitis, Sparse eyelashes, Sparse eyebrow, Posterior blepharitis, Postnatal growt... ORPHA:477
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... ORPHA:90041
Bone Marrow Failure Syndrome 3
Myopia, Epicanthus, Short stature, Pancreatic steatosis, Hypermetropia, Hyperkeratosis, Nail dyst... OMIM:617052
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Mental deterioration, Macular degeneration, Cataract OMIM:619780
Peroxisome Biogenesis Disorder 14B
Dry skin OMIM:614920
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Confusion, Short stature, Diplopia, Dry skin ORPHA:220295
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Palmop... OMIM:614594
Lipoid Proteinosis
Thickened skin, Hyperkeratosis, Alopecia of scalp, High palate, Dysphagia, Microglossia, Tongue n... ORPHA:530
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Galactosemia I
Hemolytic anemia, Cataract, Increased level of galactitol in plasma, Hypergalactosemia, Increased... OMIM:230400
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Acantholysis, Absent eyelashes, Cleft palate, Congenital alopecia totalis, Intrau... ORPHA:158687
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis... OMIM:615023
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Maternal Uniparental Disomy Of Chromosome 4
Ataxia, Short stature, Postnatal growth retardation, Diarrhea, Nyctalopia, Dysmetria, Depression,... ORPHA:96180
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Blindness, Symblepharon, Trichiasis, Acantholysis, Oral-pharyngeal... ORPHA:95455
Autoimmune Hepatitis
Splenomegaly, Depression, Increased total bilirubin ORPHA:2137
Kanzaki Disease
Tortuosity of conjunctival vessels, Hyperkeratosis, Cognitive impairment, Dry skin, Petechiae OMIM:609242
Noonan Syndrome 10
Curly hair, Epicanthus, Short stature, Sparse eyebrow, Hyperkeratosis, High palate, Webbed neck, ... OMIM:616564
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Orthok... OMIM:604777
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Epicanthus, Alopecia, Sparse eyelashes, Palpebral edema, Sparse scalp hair, Epide... OMIM:137940
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Facial erythema, Skin vesicle, Palmoplantar erythema, Striae distensae ORPHA:64745
Cockayne Syndrome A
Hepatomegaly, Dry hair, Ataxia, Short stature, Splenomegaly, Hypermetropia, Severe postnatal grow... OMIM:216400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Complex Regional Pain Syndrome
Abnormality of hair growth, Erythema, Dry skin ORPHA:83452
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Limb-Mammary Syndrome
Absent lacrimal punctum, Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Ab... ORPHA:69085
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Short stature, Hyperlip... ORPHA:2089
Acute Radiation Syndrome
Diarrhea, Skin ulcer, Hyperkeratosis, Vomiting, Scaling skin ORPHA:454831
Cockayne Syndrome B
Hepatomegaly, Dry hair, Severe short stature, Ataxia, Postnatal growth retardation, Splenomegaly,... OMIM:133540
Harlequin Ichthyosis
Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ectropion ORPHA:457
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Thrombocytopenia OMIM:208085
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Opisthotonus ORPHA:95232
Atopic Keratoconjunctivitis
Abnormal eyelid morphology, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Dry skin, Bl... ORPHA:163934
Hydroxykynureninuria
Stomatitis, Dry skin ORPHA:79155
Netherton Syndrome
Sparse scalp hair, Parakeratosis, Villous atrophy, Brittle hair, Brittle scalp hair, Sparse eyebr... OMIM:256500
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... OMIM:613027
Lymphatic Malformation 12
Neonatal death, Hyperkeratosis, Death in adolescence OMIM:620014
Wiedemann-Rautenstrauch Syndrome
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Truncal ataxia, Sparse... OMIM:264090
Vulvovaginal Gingival Syndrome
Parakeratosis, Erythema ORPHA:83453
Papillorenal Syndrome
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... OMIM:120330
Leprosy
Absent eyebrow, Blindness, Alopecia, Abnormality of the spleen, Loss of eyelashes, Penetrating fo... ORPHA:548
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Cognitive impairment, Dystonia, Che... ORPHA:309246
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Alopecia, Palpebral edema, Erythema, Skin ulcer, Constipation, Dysph... ORPHA:93672
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... ORPHA:79277
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil m... ORPHA:534
Metachromatic Leukodystrophy, Adult Form
Short attention span, Bowel incontinence, Progressive psychomotor deterioration, Reduced visual a... ORPHA:309271
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Confusion, Depression, Hepatosplenome... ORPHA:309288
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Short stature, Hepatosplenomegaly, Irritability, Eyelid coloboma, ... ORPHA:51
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le... OMIM:300972
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Rhizomelia, Short stature, Hyperkeratosis, Intrauterine growth retardation ORPHA:163966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cataract, Retinal dystrophy, Elevated circulating creatine kinase concentration OMIM:616538
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Growth delay, Nail ... OMIM:614008
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S... OMIM:602347
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion, Short stature OMIM:616298
Wolfram Syndrome 1
Sideroblastic anemia, Cataract, Megaloblastic anemia, Tremor, Optic atrophy, Pigmentary retinopat... OMIM:222300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration... OMIM:236670
Warty Dyskeratoma
Acrokeratosis, Neoplasm of the tongue, Epidermal thickening, Acantholysis ORPHA:69745
Plague
Hepatomegaly, Hematemesis, Splenomegaly, Diarrhea, Unsteady gait, Enterocolitis, Skin ulcer, Bloo... ORPHA:707
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Ectropion, Ataxia, S... ORPHA:98907
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Exercise-Induced Malignant Hyperthermia
Ataxia, Confusion, Vomiting, Decreased liver function, Hepatic failure, Lethargy, Delirium, Dry s... ORPHA:466650
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia OMIM:613658
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... OMIM:300578
Incontinentia Pigmenti
Alopecia, Short stature, Supernumerary nipple, Abnormal hair morphology, Erythema, Skin ulcer, Hy... ORPHA:464
Chromomycosis
Hyperparakeratosis, Hyperkeratosis, Keratoconjunctivitis sicca, Eyelid retraction, Hyperkeratotic... ORPHA:182
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... OMIM:158000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Retinal degeneration OMIM:208500
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair OMIM:614940
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Depression, Hypoalbuminemia, Hi... ORPHA:171
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Epicanthus, Short attention span, Myopia, Amblyopia, Synophrys, Cleft palate, Hepat... OMIM:301066
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Sparse axillary hair, Diarrhea, Constipation, Delayed puber... ORPHA:95409
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Ablepharon, Hypoplasia of eyelid, Redundant skin, Absent eyelashes, Anteriorly pl... OMIM:200110
Uremic Pruritus
Dry skin, Elevated total serum tryptase, Depression ORPHA:94059
Cerebrotendinous Xanthomatosis
Optic disc pallor, Cataract, Xanthelasma, Abnormal circulating cholesterol concentration, Dementia OMIM:213700
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
X-Linked Intellectual Disability, Nascimento Type
Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Low posterior hairline, Upslanted palpebra... ORPHA:163956
Juvenile Polyposis Of Infancy
Refractory anemia, Hypoalbuminemia, Anemia ORPHA:79076
Noonan Syndrome 2
Curly hair, Epicanthus, Short stature, Sparse eyebrow, Low posterior hairline, Hyperkeratosis, Hi... OMIM:605275
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis, Nail dystrophy OMIM:175900
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Alopecia, Short stature, Erythema, Hyperkeratosis, Congenital ichthyosiform erythr... OMIM:308050
Primary Sjögren Syndrome
Chronic active hepatitis, Xerostomia, Biliary cirrhosis, Skin ulcer, Chronic hepatitis, Depressio... ORPHA:289390
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Myopia, Hypopigmentation of hair, Malabsorption, Amblyopia, Thickene... ORPHA:79430
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Sparse scalp hair, Splenomegaly, Chronic diarrhea, Aplasia of the sweat glands, Spa... OMIM:612132
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Noonan Syndrome 1
Myopia, Epicanthus, Short stature, Postnatal growth retardation, High, narrow palate, Cleft palat... OMIM:163950
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft palate, Nai... OMIM:617337
Tyrosinemia Type 2
Ataxia, Visual loss, Photophobia, Hyperkeratosis, Palmoplantar keratoderma ORPHA:28378
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Optic atrophy OMIM:616881
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis OMIM:133200
Incontinentia Pigmenti
Alopecia, Short stature, Supernumerary nipple, Erythema, Fine hair, Hyperkeratosis, Coarse hair, ... OMIM:308300
Tay-Sachs Disease
Psychomotor deterioration, Cherry red spot of the macula, Exaggerated startle response, Dementia OMIM:272800
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Visual impair... OMIM:615225
Hardikar Syndrome
Hypersplenism, Splenomegaly, Hepatosplenomegaly, Pigmentary retinopathy, Irritability, Hyperbilir... OMIM:301068
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Dry skin, Upslanted palpebral fissure OMIM:619306
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Thrombocytopenia, Developmental cataract, Vitreous hemor... OMIM:620185
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... ORPHA:567983
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Spinocerebellar Ataxia 34
Ataxia, Epidermal hyperkeratosis, Limb ataxia, Gait ataxia, Dysdiadochokinesis OMIM:133190
Blau Syndrome
Splenomegaly, Visual loss, Erythema, Xerostomia, Skin ulcer, Photophobia, Abnormality of the live... ORPHA:90340
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis ORPHA:38
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis OMIM:613736
Smith-Lemli-Opitz Syndrome
Cataract, Splenomegaly, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration,... OMIM:270400
Liver Disease, Severe Congenital
Hyponatremia, Short attention span, Elevated circulating alpha-fetoprotein concentration, Increas... OMIM:619991
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Tylosis With Esophageal Cancer
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... OMIM:148500
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Pseudohypoparathyroidism Type 1B
Calcinosis, Cataract, Depression, Irritability, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, ... ORPHA:94089
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Ataxia, Splenomegaly, Jaundice, Decreased glucosephosphate isomerase level, C... OMIM:613470
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Cognitive ... ORPHA:79259
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Thickened skin, Photophobia, Hyperkeratosis, Visual impairment ORPHA:79431
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Chronic pancrea... ORPHA:98908
Cadds
Cataract, Increased circulating very long-chain fatty acid concentration, Dystonia ORPHA:369942
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Generalized hyperkeratosis ORPHA:349
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... OMIM:309000
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... ORPHA:280921
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Addison Disease
Decreased circulating cortisol level, Sparse axillary hair, Celiac disease, Diarrhea, Constipatio... ORPHA:85138
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Mucoepithelial Dysplasia, Hereditary
Blindness, Alopecia, Chronic diarrhea, Furrowed tongue, Melena, Keratoconjunctivitis, Photophobia... OMIM:158310
Subacute Cutaneous Lupus Erythematosus
Hyperkeratosis, Psoriasiform lesion ORPHA:163525
Triploidy
Hepatomegaly, Intestinal malrotation, Abnormality of the pancreas, Abnormality of the gallbladder... ORPHA:3376
Lymphatic Malformation 4
Hyperkeratosis OMIM:615907
Chime Syndrome
Epicanthus, Erythema, Skin ulcer, Cleft palate, Upslanted palpebral fissure, Hyperkeratosis, Fine... ORPHA:3474
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Esophageal stenosis, Ataxia, High anterior hairline, Hyperkeratosis, Dysphagia, Achalasia, Ptosis OMIM:615510
Darier-White Disease
Enlargement of parotid gland, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Pemphigus Vulgaris
Acantholysis ORPHA:704
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Myopia, Severe short stature, Abnormal nasolacrimal system morphology, Aganglioni... ORPHA:2273
Pachyonychia Congenita
Alopecia, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratoderma, Na... ORPHA:2309
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Ichthyosis Prematurity Syndrome
Alopecia of scalp, Generalized ichthyosis, Follicular hyperkeratosis OMIM:608649
Autosomal Dominant Hypocalcemia
Emotional lability, Alopecia, Dry skin, Depression ORPHA:428
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Hypertriglyceridemia, Short stature, Abnormal hair morphology, ... ORPHA:79474
Ameloonychohypohidrotic Syndrome
Dry skin OMIM:104570
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Exaggerated startle response, Optic nerve hypoplasia, Short attention span OMIM:617864
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Myopia, Epicanthus, Blindness, Excessive wrinkled skin, Thin skin, F... OMIM:225400
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Hypergranulosis, Esophageal neoplasm, Palmoplantar hyperkeratosis, Pal... ORPHA:79501
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... OMIM:268315
Premature Aging Syndrome, Penttinen Type
Thickened skin, Hypermetropia, Palmoplantar hyperkeratosis, Hyperkeratosis, Thin skin, Shallow or... OMIM:601812
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap... ORPHA:637
Chand Syndrome
Curly hair, Ataxia, Bifid tongue, Cleft palate, Ankyloblepharon, Dry skin ORPHA:1401
Leprechaunism
Facial hypertrichosis, Hepatomegaly, Postnatal growth retardation, Thickened skin, Rectal prolaps... ORPHA:508
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Hyperbilirubinemia ORPHA:562639
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Senior-Boichis Syndrome
Anemia, Hepatosplenomegaly, Attention deficit hyperactivity disorder, Increased total bilirubin ORPHA:84081
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, Irritability, Hypoasparaginemia OMIM:615574
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Myopia, Sparse scalp hair, Mild postnatal growth retardation, Redundant skin i... OMIM:150230
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Cataract, Elevated circulating creatine kinase concentration, Cognitive impairment ORPHA:363623
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, Bup... OMIM:253280
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Pachyonychia Congenita 1
Oral leukoplakia, Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis OMIM:618531
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Restrictive Dermopathy 1
Entropion, Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Absent eyelashes, Sparse eyebr... OMIM:275210
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Hepatomegaly, Hyperkeratosis, Stomatitis OMIM:612852
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... ORPHA:99829
Microphthalmia, Syndromic 5
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma OMIM:610125
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Telecanthus, Sparse eyelashes, Absence of Stensen duct, Sparse axillary hair, ... OMIM:129900
Metachromatic Leukodystrophy, Late Infantile Form
Reduced visual acuity, Gait ataxia, Progressive gait ataxia, Tip-toe gait, Cholecystitis, Emotion... ORPHA:309256
De Sanctis-Cacchione Syndrome
Parakeratosis, Entropion, Ataxia, Severe short stature, Scissor gait, Choreoathetosis, Conjunctiv... OMIM:278800
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive psychomotor deterioration, Reduced visual acuity, Progressive g... ORPHA:309263
Ectodermal Dysplasia-Skin Fragility Syndrome
Short stature, Abnormal tongue morphology, Chronic diarrhea, Palmoplantar keratoderma, Scaling sk... ORPHA:158668
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Cataract, Splenomegaly, Optic atrophy, Hypokalemia, Hypocalcemia OMIM:617913
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:151660
Bethlem Myopathy
Waddling gait, Hyperkeratosis, Gait disturbance, Difficulty walking ORPHA:610
Ogden Syndrome
Torticollis, Irritability, Iron deficiency anemia, Hyperbilirubinemia, Polycythemia, Thrombocytop... OMIM:300855
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Irrit... OMIM:608643
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Resting tremor, Cataract, Optic atrophy, Depression, Head tremor, Mental deterioration, Memory im... ORPHA:314404
Listeriosis
Liver abscess, Ataxia, Miscarriage, Visual loss, Jaundice, Peritonitis, Diarrhea, Hepatic granulo... ORPHA:533
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Optic disc coloboma, Aplasia of the thymus, Iris coloboma, Unconjugated hyperbilirubinemia OMIM:620186
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Abnormal erythrocyte enzyme level, Abnormal circula... ORPHA:101330
Fabry Disease
Conjunctival telangiectasia, Short stature, Malabsorption, Hyperlipidemia, Depression, Hyperkerat... ORPHA:324
Genitopalatocardiac Syndrome
Abnormal mesentery morphology, Abnormality of the gallbladder, Cleft palate, Intrauterine growth ... ORPHA:2075
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Action tremor, Splenomegaly, Hyperglycinemia, Incr... ORPHA:309854
Kindler Epidermolysis Bullosa
Esophageal stricture, Erythema, Abnormality of the anus, Hyperkeratosis, Inflammation of the larg... ORPHA:2908
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Pemphigus Erythematosus
Acantholysis ORPHA:79480
Restrictive Dermopathy
Telecanthus, Entropion, Generalized hyperkeratosis, Short nail, Epidermal hyperkeratosis, Sparse ... ORPHA:1662
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Intestinal polyposis, Gastrointestinal hemorrhage, Portal hypertensi... ORPHA:774
Reactive Arthritis
Diarrhea, Photophobia, Hyperkeratosis, Inflammation of the large intestine, Conjunctivitis, Recur... ORPHA:29207
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Anal stenosis, Sparse eyelashes, Lacrimal duct stenosis, Absence of Stensen du... OMIM:604292
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Elevated ... ORPHA:100086
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat... OMIM:619534
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Rhizomelic arm shortening, Dry skin, Short stature ORPHA:508542
Warburg-Cinotti Syndrome
Epicanthus, Symblepharon, Erythema, Narrow palpebral fissure, High palate, Thin skin, Follicular ... OMIM:618175
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Milroy Disease
Hyperkeratosis, Epicanthus ORPHA:79452
Dermatomyositis
Abnormal hair quantity, Abnormal eyelid morphology, Gastrointestinal stroma tumor, Erythema, Skin... ORPHA:221
Steinert Myotonic Dystrophy
Short attention span, Posterior subcapsular cataract, Emotional lability, Depression, Astigmatism... ORPHA:273
Helix Syndrome
Dry skin, Xerostomia OMIM:617671
Kawasaki Disease
Abnormality of nail color, Jaundice, Diarrhea, Hepatitis, Irritability, Conjunctivitis, Cholecyst... ORPHA:2331
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Triosephosphate Isomerase Deficiency
Death in infancy, Splenomegaly, Jaundice, Unsteady gait, Death in adolescence, Cholecystitis, Pro... OMIM:615512
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Symptomatic Form Of Hfe-Related Hemochromatosis
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Abno... ORPHA:465508
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia, Iris atrophy, Decreased circulating cortisol level OMIM:620305
Cranioectodermal Dysplasia 2
Splenomegaly, Polysplenia, Hyperbilirubinemia OMIM:613610
Degcags Syndrome
Pancytopenia, Congenital hypoplastic anemia, Hepatosplenomegaly, Leukopenia, Iron deficiency anem... OMIM:619488
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Waddling gait, Myopia, Epicanthus, Cleft soft palate, Cutis laxa, Follicular hyperkeratosis OMIM:614557
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Epicanthus, Parakeratosis, Biliary hyperplasia, Pyloric stenosis, Postnatal growth ... ORPHA:83617
Vacterl/Vater Association
Abnormality of the pancreas, Anorectal anomaly, Abnormality of the gallbladder, Tracheoesophageal... ORPHA:887
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Celiac d... ORPHA:183675
Koolen-De Vries Syndrome Due To A Point Mutation
Epicanthus, Alopecia, Postnatal growth retardation, Hypermetropia, Upslanted palpebral fissure, H... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Epicanthus, Alopecia, Postnatal growth retardation, Hypermetropia, Upslanted palpebral fissure, H... ORPHA:363958
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascu... ORPHA:91500
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Cataract OMIM:620327
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Abnorma... ORPHA:781
Sandhoff Disease
Cherry red spot of the macula, Exaggerated startle response, Progressive psychomotor deterioratio... OMIM:268800
Rett Syndrome
Inability to walk, Bradykinesia, Gait disturbance, Cholecystitis, Difficulty walking ORPHA:778
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Anemia, Depression OMIM:184850
Smith-Lemli-Opitz Syndrome
Epicanthus, Hypopigmentation of hair, Aganglionic megacolon, Short stature, Rhizomelia, Abnormal ... ORPHA:818
Hyperekplexia 2
Exaggerated startle response, Astigmatism OMIM:614619
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis OMIM:610227
Ullrich Congenital Muscular Dystrophy 1
High palate, Follicular hyperkeratosis OMIM:254090
6Q Terminal Deletion Syndrome
Highly arched eyebrow, High, narrow palate, Low anterior hairline, Dysmetria, Gait ataxia, Hyperm... ORPHA:75857
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Cowden Syndrome
Myopia, Ataxia, Conjunctival hamartoma, Short stature, Furrowed tongue, Hamartomatous polyposis, ... ORPHA:201
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Increased circulating lactate dehydrogenase concentration, Conf... ORPHA:99827
Meige Disease
Cobblestone-like hyperkeratosis, Skin ulcer ORPHA:90186
Knobloch Syndrome
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener... ORPHA:1571
Congenital Disorder Of Glycosylation, Type Iim
Rod-cone dystrophy, Neonatal hyperbilirubinemia OMIM:300896
Hereditary Sensory And Autonomic Neuropathy Type 4
Short attention span, Growth delay, Aplasia of the sweat glands, Abnormal emotion, Difficulty wal... ORPHA:642
Kyphoscoliotic Ehlers-Danlos Syndrome
Myopia, Epicanthus, Short stature, Synophrys, High palate, Thin skin, Follicular hyperkeratosis, ... ORPHA:536545
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy OMIM:617301
Autosomal Dominant Optic Atrophy And Cataract
Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr... ORPHA:67036
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Tropical Endomyocardial Fibrosis
Splenomegaly, Hypoalbuminemia, Eosinophilia ORPHA:75565
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy, Cognitive impairment OMIM:617527
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Hyperkeratosis with erythema, Coarse hair, Moderate postnatal growth retardation OMIM:118650
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... OMIM:619539
Wolf-Hirschhorn Syndrome
Epicanthus, Ataxia, Highly arched eyebrow, Abnormality of the gallbladder, Cleft palate, Low post... ORPHA:280
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy ORPHA:391665
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Optic atrophy OMIM:617281
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Depression OMIM:620114
Pachyonychia Congenita 3
Plantar hyperkeratosis, Furrowed tongue, Palmoplantar keratoderma, Nail dystrophy, Follicular hyp... OMIM:615726
Pmm2-Cdg
Cataract, Reduced thyroxin-binding globulin, Hypoalbuminemia, Impaired neutrophil chemotaxis, Pho... ORPHA:79318
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy, Dystonia ORPHA:521426
Alzahrani-Kuwahara Syndrome
Dry skin, Short stature, Tip-toe gait OMIM:619268
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Short attention span, Epicanthus, Abnormality of hair texture, Thickened skin, Synophrys, Hypopla... ORPHA:73223
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Cherry red spot of the macula, Exaggerated startle response, Dystonia ORPHA:79255
Mycetoma
Cobblestone-like hyperkeratosis ORPHA:2583
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Dystonia ORPHA:438216
Abetalipoproteinemia
Fat malabsorption, Ataxia OMIM:200100
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Waddling gait, Telecanthus, Short stature, Growth delay, Intrauterine growth retardation, Dry ski... ORPHA:99646
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis, Adenocarcinoma of the colon OMIM:620189
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,... OMIM:300166
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Ramon Syndrome
Hyperkeratosis, Short stature, Narrow palate, Hypertrichosis OMIM:266270
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Conjunctival icterus, Sp... OMIM:243800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Decreased serum iron, Dystonia, Anemia ORPHA:438213
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Lymphatic Filariasis
Hyperkeratosis ORPHA:2035
Igg4-Related Kidney Disease
Retroperitoneal fibrosis, Dacryocystitis, Abnormal mesentery morphology, Sclerosing cholangitis, ... ORPHA:449395
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hyperkeratosis ORPHA:79280
Proteus Syndrome
Myopia, Retinal hamartoma, Splenomegaly, Thickened skin, Downslanted palpebral fissures, Generali... ORPHA:744
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response OMIM:618367
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hyperparakeratosis ORPHA:276280
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:619522

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 Cyp7a1

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 Cyp7a1.

No publications found that use IMPC mice or data for Cyp7a1.

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
Cyp7a1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cyp7a1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Cyp7a1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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