Registered for phenotyping at IMPC

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

Gene Summary

Name:
regucalcin
Synonyms:
SMP30

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rgn mutations

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

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

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 31, Multiple Types
Nuclear cataract, Anterior subcapsular cataract, Posterior subcapsular cataract OMIM:605387
Alopecia Areata 2
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis OMIM:610753
Hypotrichosis Simplex
Sparse body hair, Alopecia, Sparse eyebrow, Sparse hair, Sparse eyelashes, Sparse scalp hair ORPHA:55654
Alopecia Universalis Congenita
Alopecia universalis, Absent axillary hair, Absent eyelashes, Absent eyebrow, Absent pubic hair OMIM:203655
Hypotrichosis 4
Sparse body hair, Uncombable hair, Alopecia, Sparse eyebrow, Sparse eyelashes, Sparse scalp hair OMIM:146550
Alopecia Areata 1
Nail pits, Alopecia universalis, Patchy alopecia, Trachyonychia, Alopecia totalis OMIM:104000
Alopecia Universalis
Absent eyebrow, Alopecia universalis, Patchy alopecia, Absent eyelashes ORPHA:701
Hypotrichosis 11
Alopecia universalis, Absent axillary hair, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypo... OMIM:615059
Cataract 1, Multiple Types
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract OMIM:116200
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Sparse pubic hair, Sparse scalp hair ORPHA:505
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Thin toenail, Alopecia, Dystrophic toenail OMIM:614928
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails,... ORPHA:2722
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Alopecia, Dystrophic toenail, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Dyspnea, Wheezing, Chronic pulmonary obstruction, Cough, Chronic bronch... OMIM:613490
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Alopecia universalis, Abnormal eyelash morphology, EEG abnormality, Hearing imp... ORPHA:1008
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Parc Syndrome
Absent eyebrow, Alopecia, Absent eyelashes OMIM:600331
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Sparse body hair, Trichorrhexis nodosa, Brittle hair, Alopecia, Coarse hair, Spa... ORPHA:3361
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail ORPHA:169095
Hidrotic Ectodermal Dysplasia
Anonychia, Nail dystrophy, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine ha... ORPHA:189
Ectodermal Dysplasia 4, Hair/Nail Type
Sparse body hair, Pili torti, Onycholysis, Brittle hair, Alopecia, Temporal hypotrichosis, Absent... OMIM:602032
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Aniridia 1
Cataract, Ectopia pupillae, Ectopia lentis, Corneal erosion, Anterior subcapsular cataract, Optic... OMIM:106210
Idiopathic Bronchiectasis
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Clubbing, Prod... ORPHA:60033
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Pili Torti
Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair, Alopecia, Hearing impairment,... ORPHA:2889
Bronchopulmonary Dysplasia
Small for gestational age, Dyspnea, Abnormal respiratory system physiology, Atelectasis, Cough, P... ORPHA:70589
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Inspiratory crackles, Dyspnea, Reduced FEV1/FVC ratio, Clubbing, Chronic pulmonary obstruction, D... ORPHA:79127
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Apl... ORPHA:1067
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Gait disturbance, Elevated hepatic transaminase, Hepatic steatosis, Hammertoe, Mildly elevated cr... OMIM:618400
Hypophosphatasia
Craniosynostosis, Abnormal metaphysis morphology, Respiratory insufficiency, Failure to thrive in... ORPHA:436
Crandall Syndrome
Sparse body hair, Fine hair, Brittle hair, Alopecia, Sensorineural hearing impairment, Aplasia/Hy... ORPHA:202
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Subcapsular cataract, Decreased nerve conduction velocity, Sensorineural hearing impair... OMIM:612674
Chanarin-Dorfman Syndrome
Subcapsular cataract, Alopecia, Sensorineural hearing impairment, Microtia OMIM:275630
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hypertriglyceri... OMIM:614480
Monilethrix
Cataract, Patchy alopecia, Abnormal eyelash morphology, Abnormal eyebrow morphology, Fine hair, A... ORPHA:573
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Toenail dysplasia, Ectopia lentis, Alopecia, Hearing impairment, Abnormal fingernail morphology, ... ORPHA:2325
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
L-Ferritin Deficiency
Alopecia OMIM:615604
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Gyrate Atrophy Of Choroid And Retina
Cataract, Subcapsular cataract, Abnormal hair morphology, Hearing impairment ORPHA:414
Alpha-1-Antitrypsin Deficiency
Jaundice, Hepatomegaly, Hepatitis, Emphysema, Hepatic failure ORPHA:60
Monilethrix
Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy, Sparse hair OMIM:158000
Uncombable Hair Syndrome
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia ORPHA:1410
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Dyspnea, Clubbing, Restrictive ventilatory defect, Hypoxemia, He... OMIM:612387
Candidiasis, Familial, 1
Alopecia OMIM:114580
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Clouston Syndrome
Cataract, Nail dysplasia, Onycholysis, Absent axillary hair, Fine hair, Brittle hair, Alopecia, S... OMIM:129500
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Alopecia, Ridged nail, Nail dystrophy OMIM:601705
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Portal hypertension, Hepatic failure, Emphysema, Cirrhosis OMIM:210050
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Respiratory insufficiency, Cough, Bronchiectasis, Emphysema, Ast... ORPHA:1164
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity OMIM:601382
Cutis Laxa-Marfanoid Syndrome
Hip dislocation, Arachnodactyly, Emphysema, Limitation of joint mobility, Congenital diaphragmati... ORPHA:171719
Neutral Lipid Storage Disease With Myopathy
Difficulty walking, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine ki... OMIM:610717
Björnstad Syndrome
Brittle hair, Alopecia, Sensorineural hearing impairment ORPHA:123
Autosomal Dominant Optic Atrophy And Cataract
Cataract, Cerulean cataract, Posterior cortical cataract, Anterior subcapsular cataract, Anterior... ORPHA:67036
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Decreased DLCO, Hypophosphatemic rickets, Pulmonary fibrosis, Emphysema, Aminoa... OMIM:618913
Hypotrichosis 5
Absent axillary hair, Sparse eyelashes, Abnormality of the nail, Alopecia, Abnormal sweat gland m... OMIM:612841
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Elevated hepatic transaminase, Elevated circulating alka... OMIM:616829
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615395
Woolly Hair
Cataract, Sparse body hair, Fine hair, Abnormal pupil morphology, Brittle hair, Abnormality of ha... ORPHA:170
Retinitis Pigmentosa 13
Optic disc drusen, Subcapsular cataract OMIM:600059
Kerion Celsi
Alopecia ORPHA:499
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Posteriorly rotated ears, Microcornea, Posterior subcapsular cataract OMIM:615458
Flynn-Aird Syndrome
Cataract, Progressive sensorineural hearing impairment, Alopecia of scalp, Alopecia OMIM:136300
Pulmonary Blastoma
Dyspnea, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Weight loss ORPHA:64741
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Alopecia totalis OMIM:302000
Cholesteryl Ester Storage Disease
Reduced lysosomal acid lipase activity, Low alkaline phosphatase, Hepatomegaly, Elevated gamma-gl... OMIM:278000
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract OMIM:612572
Oliver-Mcfarlane Syndrome
Long eyelashes, Central heterochromia, Alopecia, Long eyebrows, Sparse hair OMIM:275400
Pili Torti-Onychodysplasia Syndrome
Sparse body hair, Alopecia universalis, Abnormal pinna morphology, Brittle hair, Alopecia, Absent... ORPHA:2890
Moynahan Syndrome
Sparse hair, Alopecia, Sensorineural hearing impairment ORPHA:2574
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Ataxia, Restrictive ventilatory defect, Cough, Hepatomegaly, Joint dislocation, Arthriti... ORPHA:36412
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating aspartate aminotransferase concentration, Decreased plasma free carnitine, E... OMIM:619048
Citrullinemia, Type Ii, Neonatal-Onset
Hyperthreoninemia, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosphatase conce... OMIM:605814
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Increased blood urea nitrogen, Failure to thrive, Hepatic steatosis, Hepatic failur... OMIM:617872
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Palmoplantar Keratoderma And Congenital Alopecia 2
Developmental cataract, Nail dysplasia, Alopecia totalis, Nail dystrophy OMIM:212360
Erythrokeratodermia Variabilis
Cataract, Protruding ear, Abnormality of the nail, Alopecia, Hearing impairment, Corneal opacity,... ORPHA:317
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Inguinal hernia, Slender build, Cholestasis, Respiratory failure, Decreased liver functi... OMIM:613658
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Brittle hair, Dystrophic fingernails, Alopecia, Dystrophic toenail, Abnormal sweat g... OMIM:614929
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, ... OMIM:232700
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Pancreatitis, Elevated circulating... OMIM:619386
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Hip dislocation, Emphysema, Congenital diaphragmatic hernia OMIM:614100
Citrullinemia, Type Ii, Adult-Onset
Hepatocellular carcinoma, Hyperammonemia, Pancreatitis, Elevated circulating alanine aminotransfe... OMIM:603471
Interstitial Lung And Liver Disease
Dyspnea, Hyperammonemia, Clubbing, Elevated circulating aspartate aminotransferase concentration,... OMIM:615486
Bjornstad Syndrome
Brittle hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about ... OMIM:262000
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly, Weight loss ORPHA:79238
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Emphysema, Chronic pulmonary obstruction OMIM:130700
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Posterior subcapsular cataract OMIM:618195
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Protruding ear, Alopecia, Fingernail dysplasia, Sparse hair, Ridged... ORPHA:2251
Idiopathic Achalasia
Bronchitis, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia, Wheezing, Weight loss ORPHA:930
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged s... OMIM:616648
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration, Short humerus, Inguinal hernia, Osteopenia, Fail... OMIM:222765
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal toenail morphology, Fine hair, Alopecia, Abnormal fingernail morphology, Abnormal hair m... ORPHA:248
Alopecia-Intellectual Disability Syndrome
Sparse body hair, EEG abnormality, Alopecia, Hearing impairment, Macrotia, Aplasia/Hypoplasia of ... ORPHA:2850
Surfactant Metabolism Dysfunction, Pulmonary, 3
Clubbing, Desquamative interstitial pneumonitis, Hypoxemia, Usual interstitial pneumonia, Respira... OMIM:610921
Abcd Syndrome
Albinism, Aganglionic megacolon, Hearing impairment, Total intestinal aganglionosis, White eyelas... OMIM:600501
Bone Dysplasia, Lethal Holmgren Type
Recurrent respiratory infections, Abnormal diaphysis morphology, Respiratory insufficiency, Short... ORPHA:1842
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Elevated circulating acylcarnitine concentration, Hepatic steatosis, Failur... ORPHA:26792
Retinitis Pigmentosa 66
Optic disc pallor, Posterior subcapsular cataract OMIM:615233
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hyperammonemia, Distal arthrogryposis, Ataxia, Hepatomegaly, Cachexia, Elevated hepatic transamin... ORPHA:42
Wilson Disease
Acute hepatic failure, Acute hepatitis, Jaundice, Joint swelling, Pathologic fracture, Difficulty... ORPHA:905
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Subcapsular cataract, Elevated hepatic transaminase OMIM:268020
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Nail dysplasia, Alopecia, Conjunctivitis, Sparse eyebrow, Scarring alopecia of scalp, N... OMIM:612843
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Inability to walk, Central sleep apnea, Ataxia, Failure to thrive, Obstructive sleep apnea, Respi... ORPHA:70472
Ectodermal Dysplasia-Syndactyly Syndrome 1
Patchy alopecia, Absent facial hair, Alopecia, Small nail, Coarse hair, Hypoplastic toenails, Spa... OMIM:613573
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Posterior subcapsular cataract OMIM:300619
Retinitis Pigmentosa 14
Optic disc pallor, Posterior subcapsular cataract OMIM:600132
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Lipodystrophy, Generalized lipodystrophy, Hepatomegaly, Splenomegaly, Hypertr... OMIM:612526
Meier-Gorlin Syndrome 1
Thin ribs, Aplasia/Hypoplasia of the patella, Cutaneous finger syndactyly, Absent glenoid fossa, ... OMIM:224690
Retinitis Pigmentosa 25
Optic disc pallor, Posterior subcapsular cataract OMIM:602772
Non Rare In Europe: Idiopathic Anterior Uveitis
Nuclear cataract, Posterior synechiae of the anterior chamber, Increased cup-to-disc ratio, Poste... ORPHA:280914
Retinitis Pigmentosa 56
Nuclear cataract, Optic disc pallor, Posterior subcapsular cataract OMIM:613581
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Restrictive ventilatory defect, Cough, Elevated hepatic transaminase, Arachno... OMIM:619013
Retinitis Pigmentosa 72
Optic disc pallor, Peripapillary atrophy, Posterior subcapsular cataract OMIM:616469
Plin1-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Lipoatrophy, Hepatic fibrosis, Hypertriglyceridemia,... ORPHA:280356
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Aspiration pneumonia, Aplasia/Hypoplasia of fingers, Respiratory distress, Upper airway ... ORPHA:141152
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Jaundice, Cholestasis, Steatorrhea, Hepatomegaly, Prolonged neonatal jaundice, Elevated ... ORPHA:79303
De Barsy Syndrome
Recurrent sinopulmonary infections, Lipodystrophy, Inguinal hernia, Congenital hip dislocation, G... ORPHA:2962
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Generalized lipodystrophy, Hepatomegaly, Cirrhosis, Reduced intraabdominal adipose tissue... ORPHA:363400
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia ORPHA:346
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Tuberculosis
Cough, Abnormal lung morphology, Weight loss ORPHA:3389
Hodgkin Lymphoma
Dyspnea, Ataxia, Cough, Hepatomegaly, Hyperhidrosis, Splenomegaly, Weight loss ORPHA:98293
Pseudopelade Of Brocq
Abnormality of the nail, Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, S... ORPHA:129
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, P... OMIM:608709
Retinitis Pigmentosa 10
Optic disc pallor, Posterior subcapsular cataract OMIM:180105
Exudative Vitreoretinopathy 4
Subcapsular cataract OMIM:601813
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Birt-Hogg-Dubé Syndrome
Multiple lipomas, Pulmonary sequestration, Pneumothorax, Emphysema ORPHA:122
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... OMIM:618805
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract OMIM:615434
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Fine hair, Dystrophic fingernails, Alopecia, Dystrophic toenail, Sparse eyebrow, Sparse scalp hair ORPHA:1882
Pleural Mesothelioma
Dyspnea, Abnormal respiratory system physiology, Cough, Abnormal pleura morphology, Hepatomegaly,... ORPHA:50251
Porphyria Cutanea Tarda
Alopecia, Facial hypertrichosis, Onycholysis OMIM:176100
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine... ORPHA:247598
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatocellular carcinoma, Osteoporosis, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transami... ORPHA:369
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Nail dysplasia, Alopecia, Sparse eyebrow, Sparse eyelashes OMIM:615704
Common Variable Immunodeficiency
Recurrent respiratory infections, Abnormality of the liver, Restrictive ventilatory defect, Failu... ORPHA:1572
Ddost-Cdg
Lipodystrophy, Elevated hepatic transaminase, Osteopenia, Failure to thrive, Hepatic steatosis ORPHA:300536
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Long finge... OMIM:615438
Ruijs-Aalfs Syndrome
Cataract, Premature graying of hair, Sparse hair, Posterior subcapsular cataract OMIM:616200
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Failure to thrive, Recurrent pneumonia, Bronchiectasis, Emphysema, Recurrent ... OMIM:242700
Combined Oxidative Phosphorylation Deficiency 9
Dyspnea, Elevated circulating aspartate aminotransferase concentration, Elevated circulating alan... OMIM:614582
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Brittle hair, Alopecia, Sparse eyebrow, Leukonychia, Sparse hair OMIM:104100
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Retinitis Pigmentosa 43
Optic disc pallor, Posterior subcapsular cataract OMIM:613810
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Lipodystrophy, Inguinal hernia, Congenital hip dislocation, Generalized joint laxity, Abnormal su... ORPHA:357074
Metaphyseal Chondrodysplasia, Schmid Type
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... ORPHA:174
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Generalized osteoporosis, Inguinal hernia, Pancreatitis, Osteoporosis, Hypermethioninemia, Failur... OMIM:236200
Cortisone Reductase Deficiency 1
Hirsutism, Alopecia OMIM:604931
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Hepatomegaly, Elevated hepatic transaminase, Micronodular cirrhosis, Hepatic steatosis,... OMIM:301045
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract, Alopecia totalis, Nail dystrophy ORPHA:1366
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Bardet-Biedl Syndrome 19
Postaxial polydactyly, Hepatic steatosis, Patent ductus arteriosus, Obesity OMIM:615996
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Calvarial hyperostosis, Osteolysis, Abnormal long bone morphology, Pathologic fracture, Weakness ... ORPHA:52430
Congenital Ichthyosiform Erythroderma
Corneal erosion, Abnormality of the nail, Alopecia, Hearing impairment, Keratitis ORPHA:79394
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... OMIM:264470
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Retinitis Pigmentosa 37
Nuclear cataract, Posterior subcapsular cataract OMIM:611131
Obsolete: Hemochromatosis Type 4
Joint swelling, Congenital hepatic fibrosis, Joint dislocation, Cirrhosis, Hepatic steatosis, Lim... ORPHA:139491
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Dyspnea, Clubbing, Restrictive ventilatory defect, Cough, Hypoxe... OMIM:181000
Congenital Tracheomalacia
Intercostal retractions, Productive cough, Pneumothorax, Pulmonary arterial hypertension, Dyspnea... ORPHA:95430
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Lipodystrophy, Elevated circulating creatine kinase con... OMIM:615980
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, Elevated hepatic tr... OMIM:251880
Hereditary Mucoepithelial Dysplasia
Cataract, Fine hair, Alopecia, Corneal dystrophy, Sparse hair ORPHA:1839
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Elevated circulating alanine aminotransferase concentration, Osteoporosis, Hepatom... OMIM:615381
Patent Ductus Venosus
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function OMIM:601466
Dietary Iron Overload Disease
Peritonitis, Hepatocellular carcinoma, Elevated transferrin saturation, Hepatic bridging fibrosis... ORPHA:139507
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal liver parenchyma morphology, Ab... ORPHA:3032
Retinitis Pigmentosa 60
Optic disc pallor, Posterior subcapsular cataract OMIM:613983
Gyrate Atrophy Of Choroid And Retina
Posterior subcapsular cataract OMIM:258870
Bare Lymphocyte Syndrome, Type I
Chronic sinusitis, Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis OMIM:604571
Meier-Gorlin Syndrome 4
Patellar aplasia, Genu recurvatum, Slender long bone, Failure to thrive, Emphysema OMIM:613804
Retinitis Pigmentosa 77
Posterior subcapsular cataract OMIM:617304
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis, Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating creatine kinase concentration, Long fingers, Respiratory failu... OMIM:608836
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cholestasis, Osteomyelitis leading to amputation due to slow healing fractures, Hepatomegaly, Pro... OMIM:256810
Keratoderma Hereditarium Mutilans
Abnormal toenail morphology, Abnormality of the nail, Alopecia, Hearing impairment, Sensorineural... ORPHA:494
Dpm1-Cdg
Hepatosplenomegaly, Camptodactyly, Ataxia, Hepatic fibrosis, Hepatomegaly, Elevated hepatic trans... ORPHA:79322
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Jaundice, Hyperammonemia, Elevated circulating aspartate aminotransfer... OMIM:617093
Carnitine Deficiency, Systemic Primary
Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulati... OMIM:212140
Chromosome Xp11.3 Deletion Syndrome
Cataract, Optic atrophy, Posterior subcapsular cataract OMIM:300578
Rotor Syndrome
Jaundice, Intermittent jaundice, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal circ... ORPHA:3111
Netherton Syndrome
Recurrent respiratory infections, Asthma, Emphysema, Aminoaciduria ORPHA:634
Hemochromatosis, Type 4
Elevated transferrin saturation, Hepatomegaly, Osteoarthritis, Cirrhosis, Hepatic steatosis, Incr... OMIM:606069
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased sarcoplasmic glycogen, Abnormal erythrocyte enzyme level, Hepatocellular adenoma, Hyper... ORPHA:264580
Congenital Generalized Lipodystrophy
Lipodystrophy, Adipose tissue loss, Increased C-peptide level, Hepatomegaly, Cirrhosis, Failure t... ORPHA:528
Retinal Dystrophy With Or Without Macular Staphyloma
Nuclear cataract, Posterior subcapsular cataract OMIM:617547
Hypomelanosis Of Ito
Cataract, Alopecia, Iris coloboma OMIM:300337
Pseudoprogeria Syndrome
Alopecia, Absent eyelashes, Absent eyebrow, Sparse eyebrow, Sparse hair ORPHA:2985
Hereditary Bullous Dystrophy, Macular Type
Cataract, Congenital abnormal hair pattern, Alopecia, Corneal opacity, Nail dystrophy, Atrichia ORPHA:1867
Retinitis Pigmentosa 83
Posterior subcapsular cataract OMIM:618173
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Bulging of the costochondral junction, Elevated circulating alkaline phosphatase concent... OMIM:264700
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Palmoplantar keratoderma, Hepatomegaly, Clubbing of toes, Weight loss ORPHA:2198
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Long eyelashes, Astigmatism, Low posterior hairline, Optic disc pallor, Abnormal auditory evoked ... OMIM:617523
Osteosarcoma
Osteolysis, Abnormal tibial metaphysis morphology, Joint swelling, Pathologic fracture, Abnormal ... ORPHA:668
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatocellular carcinoma, Increased sarcoplasmic glycogen, Abnormal erythrocyte enzyme level, Hep... ORPHA:370
Cutis Laxa, Autosomal Recessive, Type Ic
Tracheomalacia, Inguinal hernia, Atelectasis, Umbilical hernia, Pulmonary hypoplasia, Peripheral ... OMIM:613177
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Bulging of the costochondral junction, Elevated circulating alkaline phosphatase concent... OMIM:600081
Cataract 10, Multiple Types
Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Cystic Echinococcosis
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, He... ORPHA:400
Cronkhite-Canada Syndrome
Cataract, Sparse body hair, Patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Alopecia... ORPHA:2930
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipodystrophy, Hepatic steatosis, Lipoatrophy OMIM:613877
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Small for gestational age, Patellar aplasia, Hip dysplasia, Umb... OMIM:616835
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Respiratory distress, Gait ataxia, Aminoaciduria, Weight loss OMIM:612075
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Nocardiosis
Peritonitis, Pleuritis, Dyspnea, Liver abscess, Pleural effusion, Productive cough, Nonproductive... ORPHA:31204
Neutral Lipid Storage Disease With Ichthyosis
Small earlobe, Subcapsular cataract, Alopecia, Sensorineural hearing impairment ORPHA:98907
Carcinoma Of Esophagus
Cough, Weight loss, Obesity ORPHA:70482
Fanconi-Bickel Syndrome
Hepatocellular carcinoma, Rickets, Hypophosphatemia, Elevated circulating aspartate aminotransfer... ORPHA:2088
Loeys-Dietz Syndrome 4
Inguinal hernia, Protrusio acetabuli, Joint laxity, Emphysema, Joint hyperflexibility, Pneumothor... OMIM:614816
Parenteral Nutrition-Associated Cholestasis
Small for gestational age, Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminas... ORPHA:567983
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hyperhidrosis, Hepatomegaly, Splenomegaly, Weight loss ORPHA:86893
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:617519
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Familial Partial Lipodystrophy, Köbberling Type
Pancreatitis, Hepatomegaly, Hepatic steatosis, Lipoatrophy ORPHA:79084
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hyperuricemia, Cirrhosis, Hypertrigly... OMIM:604367
Classic Hodgkin Lymphoma
Osteolysis, Ataxia, Respiratory insufficiency, Cough, Hepatomegaly, Hyperhidrosis, Splenomegaly, ... ORPHA:391
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy ORPHA:79087
Hypermethioninemia Due To Adenosine Kinase Deficiency
Cholestasis, Elevated circulating alanine aminotransferase concentration, Hypermethioninemia, Ele... OMIM:614300
Alstrom Syndrome
Subcapsular cataract, Progressive sensorineural hearing impairment, Alopecia OMIM:203800
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Restrictive ventilatory defect, Hepatomegaly, Abnormal circulating creatine k... ORPHA:369840
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Alopecia, Nail dystrophy ORPHA:79397
Citrullinemia Type Ii
Hepatocellular carcinoma, Hypoproteinemia, Decreased body mass index, Pancreatitis, Acute hyperam... ORPHA:247585
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Ulnar deviation of the 3rd finger, Congenital hip dislocation, Abnormal liver parenchyma morpholo... ORPHA:456312
Exudative Vitreoretinopathy 1
Subcapsular cataract OMIM:133780
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Jaundice, Hyperammonemia, Cholestasis, Hepatic bridging fibrosis, Hepatome... OMIM:618641
Renpenning Syndrome
Cataract, Iris coloboma, Alopecia, Abnormal hairshaft morphology, Macrotia, Sensorineural hearing... ORPHA:3242
Lymphoid Interstitial Pneumonia
Dyspnea, Clubbing, Subpleural interstitial thickening, Decreased DLCO, Restrictive ventilatory de... ORPHA:79128
Mu-Heavy Chain Disease
Osteolysis, Osteoporosis, Hepatomegaly, Splenomegaly, Weight loss ORPHA:100024
Osteootohepatoenteric Syndrome
Reduced bone mineral density, Hip dysplasia, Cholestasis, Avascular necrosis of the capital femor... OMIM:619377
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Sarcoidosis
Hepatomegaly, Upper airway obstruction, Decreased liver function, Pneumothorax, Dyspnea, Joint sw... ORPHA:797
Polymyositis
Chondrocalcinosis, Gait disturbance, Respiratory insufficiency, Cough, Hepatomegaly, Elevated cir... ORPHA:732
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia ORPHA:1068
Neurofibromatosis, Type Ii
Unilateral vestibular schwannoma, Bilateral vestibular schwannoma, Tinnitus, Cortical cataract, H... OMIM:101000
Rhizomelic Chondrodysplasia Punctata, Type 1
Developmental cataract, Alopecia, Sensorineural hearing impairment OMIM:215100
Aniridia 2
Cataract, Iris coloboma, Lens subluxation, Aniridia, Optic atrophy OMIM:617141
Flynn-Aird Syndrome
Cataract, EEG abnormality, Progressive sensorineural hearing impairment, Alopecia ORPHA:2047
Fabry Disease
Abnormal circulating lipid concentration, Dyspnea, Reduced bone mineral density, Hypohidrosis, Ch... ORPHA:324
Combined Oxidative Phosphorylation Deficiency 19
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615595
Myotonic Dystrophy 2
Frontal balding, Iridescent posterior subcapsular cataract, Posterior subcapsular cataract OMIM:602668
Porphyria Cutanea Tarda
Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Chronic hepatitis, Decreased circula... ORPHA:101330
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci... OMIM:618528
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Osteoporosis, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating cr... OMIM:613327
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Hypertriglyceridemia, Emphysema, Abnormal intrahepatic bile duct morphology, Abnorma... ORPHA:363618
Rhizomelic Chondrodysplasia Punctata
Cataract, Sparse body hair, Alopecia ORPHA:177
Progeria-Short Stature-Pigmented Nevi Syndrome
Generalized osteoporosis, Small for gestational age, Short distal phalanx of finger, Lack of faci... ORPHA:2959
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Hip dysplasia, Hepatomegaly, Shoulder dislocation, Achilles tendon contracture... ORPHA:404454
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Short distal phalanx of finger, Hand polydactyly, Synostosis of ... ORPHA:289
Undifferentiated Pleomorphic Sarcoma
Abnormality of the peritoneum, Weight loss ORPHA:2023
Felty Syndrome
Recurrent respiratory infections, Pleuritis, Abnormal joint morphology, Osteolysis, Hepatomegaly,... ORPHA:47612
Neonatal Marfan Syndrome
Neonatal respiratory distress, Small for gestational age, Lipoatrophy, Hypoxemia, Arachnodactyly,... ORPHA:284979
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Cholestasis, Cholesterol gallstones, Hepatitis, Hypertri... ORPHA:209902
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Loss of gluteal subcutaneous adipose... ORPHA:435660
Pfapa Syndrome
Hepatomegaly, Arthritis, Recurrent pharyngitis, Splenomegaly, Weight loss ORPHA:42642
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Alopecia ORPHA:50944
Carnitine Palmitoyltransferase I Deficiency
Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulati... OMIM:255120
Obesity And Hypopigmentation
Hepatic steatosis, Obesity OMIM:620195
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Bulging of the costochondral junction, Elevated circulating alkaline phosphatase concent... OMIM:241530
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Hypertrig... ORPHA:435651
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Lipodystrophy, Reduced bone mineral density, Joint stif... ORPHA:1979
Adams-Oliver Syndrome 2
Low-set ears, Protruding ear, Low anterior hairline, Alopecia, Small nail, Developmental cataract... OMIM:614219
3-Methylglutaconic Aciduria, Type V
Nonprogressive cerebellar ataxia, Ataxia, Elevated circulating aspartate aminotransferase concent... OMIM:610198
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hyperammonemia, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kinase... OMIM:600649
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Osteomalacia, Sparse bone trabeculae, Increased susceptibility to fractures, Thin bony c... ORPHA:289157
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Pulmonary hypoplasia, Wide anterior fontanel, Hepatomegaly, Elevated circulating glutar... OMIM:231680
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated hepatic transaminase, Hepatic steatosis, Decreased plasma carnitine, Hyper... OMIM:201450
Benign Recurrent Intrahepatic Cholestasis
Hepatocellular carcinoma, Jaundice, Cholestatic liver disease, Pancreatitis, Elevated hepatic tra... ORPHA:65682
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Recurrent respiratory infections, Short humerus, Unsteady gait, Methylmalonic acidemia, Polydacty... ORPHA:17
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatocellular carcinoma, Elevated transferrin saturation, Abnormal metacarpophalangeal joint mor... ORPHA:465508
Abetalipoproteinemia
Steppage gait, Hepatomegaly, Respiratory failure, Abnormal circulating apolipoprotein concentrati... ORPHA:14
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Jaundice, Cholestatic liver disease, Hip dysplasia, Elevated hepatic t... OMIM:208085
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Abnormal liver parenc... ORPHA:64743
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Diffuse hepatic steatosis, Gait disturbance, Ataxia, Respiratory insufficiency due to muscle weak... ORPHA:436271
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Inguinal hernia, Umbilical hernia, Joint laxity, Emphysema, Con... OMIM:219100
Huntington Disease-Like 2
Gait disturbance, Weight loss ORPHA:98934
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Large fleshy ears, Alopecia OMIM:203550
Cataract 3, Multiple Types
Cerulean cataract, Sutural cataract, Developmental cataract, Nuclear pulverulent cataract OMIM:601547
Bresek Syndrome
Low-set ears, Iris coloboma, Protruding ear, Alopecia, Aganglionic megacolon, Optic nerve hypopla... ORPHA:85284
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Lipodystrophy, Inguinal hernia, Congenital hip dislocation, G... ORPHA:2834
Immunodeficiency 27A
Hepatosplenomegaly, Abnormal bronchus physiology, Pneumonia, Hypoplasia of the femoral head, Salm... OMIM:209950
Chylomicron Retention Disease
Steatorrhea, Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Failure to t... ORPHA:71
Majeed Syndrome
Increased bone mineral density, Cough, Hepatomegaly, Cachexia, Failure to thrive, Metaphyseal irr... ORPHA:77297
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Recurrent lower respiratory tract infections, Pleural thickening, Bronchiectasis... OMIM:619632
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hyperprolinemia, Hepatic steatosis OMIM:615918
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Idiopathic Trachyonychia
Toenail dysplasia, Nail pits, Patchy alopecia, Ridged nail, Abnormality of the periungual region,... ORPHA:79153
19P13.12 Microdeletion Syndrome
Craniosynostosis, Toe clinodactyly, Finger syndactyly, Clinodactyly of the 5th finger, Hyperlipid... ORPHA:254346
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Decreased plasma free carnitine, Reduced carnitine O-palmitoyltransferase level, Elevated circula... ORPHA:228305
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Jaundice, Cholestasis, Hypertyrosinemia, Elevated hepatic transaminase, Hypermethioninemia, Cirrh... OMIM:617156
Marfan Syndrome
Pulmonary artery dilatation, Inguinal hernia, Slender build, Arthralgia/arthritis, Osteoporosis, ... ORPHA:558
X-Linked Agammaglobulinemia
Arthritis, Failure to thrive, Hepatitis, Sinusitis, Recurrent pneumonia, Cellulitis, Hypocalcemia... ORPHA:47
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Atresia of the external auditory canal, Alopecia, ... ORPHA:2316
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Hyperammonemia, Abnormal circulating acetylcarnitine concentration, Elevat... ORPHA:71212
Hemifacial Atrophy, Progressive
Horner syndrome, Poliosis, Patchy alopecia, Microtia OMIM:141300
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Increased circulating copper concentration, Cirrhosis, Hepatic stea... ORPHA:209919
Gm1 Gangliosidosis
Hepatosplenomegaly, Recurrent respiratory infections, Camptodactyly of finger, Inguinal hernia, A... ORPHA:354
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Lipoatrophy, Pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, ... ORPHA:2348
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hyperalaninemia, Elevated hepatic transaminase, Cachexia, Cirrhosis, Macrovesicular hepatic steat... ORPHA:298
Olmsted Syndrome 1
Nail dysplasia, Alopecia universalis, Corneal opacity, Opacification of the corneal stroma, Nail ... OMIM:614594
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... OMIM:601596
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Respiratory insufficiency, Cachexia, Limitation of joint mobility, Joint hyperf... ORPHA:157973
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hyperammonemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Periportal fibr... OMIM:201475
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Mucoepithelial Dysplasia, Hereditary
Cataract, Keratoconjunctivitis, Nail dysplasia, Chronic monilial nail infection, Alopecia, Hearin... OMIM:158310
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Hyperammonemia, Elevated circulating acylcarnitine concentration, Elevated... ORPHA:99901
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatic steatosis, Increased i... ORPHA:79085
Pparg-Related Familial Partial Lipodystrophy
Hyperuricemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Hepatic ... ORPHA:79083
Autosomal Recessive Cutis Laxa Type 1
Joint subluxation, Inguinal hernia, Hip dislocation, Pathologic fracture, Respiratory insufficien... ORPHA:90349
Wilson Disease
Hypouricemia, Hepatomegaly, Osteoarthritis, Osteomalacia, Acute hepatic failure, Elevated circula... OMIM:277900
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Exertional dyspnea, Weight loss ORPHA:100083
Nicolaides-Baraitser Syndrome
Long eyelashes, Curly eyelashes, Alopecia, Highly arched eyebrow, Sparse hair, Abnormal hair pattern ORPHA:3051
Immunodeficiency 47
Hypercholesterolemia, Elevated circulating aspartate aminotransferase concentration, Cholestasis,... OMIM:300972
Diffuse Alveolar Hemorrhage
Increased DLCO, Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Pulmonary venous hyper... ORPHA:90060
Short Syndrome
Megalocornea, Abnormal pupil morphology, Abnormal anterior chamber morphology, Alopecia, Hypoplas... ORPHA:3163
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Ulnar deviation of the 3rd finger, Hip dislocation, Ataxia, Proximal placement of thumb, Steatorr... OMIM:616263
Oculopharyngodistal Myopathy
Difficulty walking, Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakn... ORPHA:98897
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Ataxia, Respiratory insufficiency due to muscle weakness, Hepatomegaly, Increased hepatocellular ... OMIM:220110
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Steatorrhea, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Osteopenia, F... OMIM:212065
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Adipose tissue loss, Hepatomegaly, H... OMIM:151660
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Inability to walk, Recurrent bronchopulmonary infections, Clubb... OMIM:617303
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Rickets of the lower limbs, Genu varum, Bulging epiphyses, Bowing of the long bones, Del... OMIM:600785
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Astigmatism, Progressive hearing impairment, Posterior subcapsular cataract OMIM:619234
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Increased hepatic echo... OMIM:261680
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Overlapping fingers, Pulmonary hypoplasia, Knee flexion contracture, Bronchiectasis, Inte... OMIM:619708
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Failure to thrive in infancy, Hepatomegaly, Prolonged neonatal jaundic... OMIM:619418
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Hepatomegaly, Increased C-peptide level, Hypertriglyceridemia, Hepatic steatosis OMIM:615238
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Acroosteolysis of distal phalanges (... ORPHA:280365
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Synophrys, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearin... OMIM:619260
Adrenomyodystrophy
Reduced bone mineral density, Hepatic steatosis, Failure to thrive ORPHA:977
Fructose-1,6-Bisphosphatase Deficiency
Intermittent hyperventilation, Dyspnea, Hyperuricemia, Hyperalaninemia, Hepatomegaly, Elevated he... ORPHA:348
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormality of the nail, Alopecia, Absent eyelashes, Abnormal sweat gland morphology, Absent eyeb... OMIM:607823
Inflammatory Pseudotumor Of The Liver
Biliary tract abnormality, Abnormal liver sonography, Elevated circulating aspartate aminotransfe... ORPHA:90003
Follicular Lymphoma
Pleural effusion, Abnormality of the peritoneum, Splenomegaly, Weight loss ORPHA:545
Skin fragility-woolly hair syndrome
Alopecia, Woolly hair, Sparse eyebrow, Nail dystrophy, Sparse eyelashes OMIM:607655
Medullary Thyroid Carcinoma
Neoplasm of the lung, Hyperhidrosis, Abnormal liver parenchyma morphology, Weight loss ORPHA:1332
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Abnormally prominent line of Schwalbe, Sensorineural hearing... OMIM:109120
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Osteoporosis, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, ... OMIM:619487
Primary Hepatic Neuroendocrine Carcinoma
Dyspnea, Intermittent jaundice, Biliary tract obstruction, Neoplasm of the liver, Intrahepatic ch... ORPHA:100085
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Protruding ear, Synophrys, EEG abnormality, Dystrophic fingernails, Dystrophic toenail, Alopecia,... ORPHA:3253
Keutel Syndrome
Short distal phalanx of finger, Chronic sinusitis, Short thumb, Calcification of the auricular ca... OMIM:245150
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Osteolysis, Gait disturbance, Metacarpal osteolysis, Abnormality of the ... ORPHA:2774
Lichen Planopilaris
Alopecia, Pterygium, Onycholysis, Abnormal fingernail morphology ORPHA:525
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Very long chain fatty acid accumu... OMIM:261515
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse body hair, Alopecia, Absent eyelashes, Absent eyebrow, Sparse scalp hair ORPHA:69735
Incontinentia Pigmenti
Cataract, Nail pits, Nail dysplasia, Ridged nail, Breast hypoplasia, Onychogryposis, Hypoplastic ... OMIM:308300
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Fragile nails, Alopecia, Keratoconus, Sensorineural hearing impairment, Sparse hair, Conjunctivitis OMIM:242150
Fibrodysplasia Ossificans Progressiva
Alopecia, Hearing impairment ORPHA:337
Marfan Syndrome
Pulmonary artery dilatation, Limited elbow extension, Camptodactyly, Incisional hernia, Genu recu... OMIM:154700
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentrati... ORPHA:54251
Autoimmune Polyendocrinopathy Type 1
Cataract, Alopecia, Opacification of the corneal stroma, Abnormal fingernail morphology ORPHA:3453
Multiple Carboxylase Deficiency
Optic atrophy, Alopecia, Hearing impairment ORPHA:148
Pulmonary Alveolar Microlithiasis
Subpleural interstitial thickening, Hypoxemia, Hepatomegaly, Respiratory failure, Pneumothorax, O... ORPHA:60025
Epidermolysis Bullosa, Junctional 1A, Intermediate
Fragile nails, Patchy alopecia, Nail dystrophy OMIM:226650
Caroli Disease
Cholangitis, Jaundice, Liver abscess, Intrahepatic cholestasis, Cholestasis, Elevated circulating... ORPHA:53035
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Onycholysis, Alopecia, Yellow nails, Sparse lateral eyebrow, Nail dystrophy OMIM:614564
Generalized Pseudohypoaldosteronism Type 1
Wheezing, Increased circulating renin level, Cough, Failure to thrive in infancy, Hyperkalemia, G... ORPHA:171876
Obsolete: Primary Pigmented Nodular Adrenocortical Disease
Dorsocervical fat pad, Increased circulating cortisol level, Osteoporosis, Elevated hepatic trans... ORPHA:189439
Diaphanospondylodysostosis
Tracheomalacia, Inguinal hernia, Respiratory insufficiency, Missing ribs, Pulmonary hypoplasia, A... OMIM:608022
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Abnormal respiratory system physiology, Reduc... ORPHA:133
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Generalized lipodystrophy, Hepatomegaly, Cirrhosis, Hyp... ORPHA:79086
Liver Failure, Infantile, Transient
Acute hepatic failure, Jaundice, Elevated circulating alanine aminotransferase concentration, Hep... OMIM:613070
Mitochondrial Trifunctional Protein Deficiency
Diffuse hepatic steatosis, Cholestasis, Respiratory insufficiency, Failure to thrive in infancy, ... ORPHA:746
Menkes Disease
Sparse hair, Hypsarrhythmia, Brittle hair, Alopecia OMIM:309400
Idiopathic Chronic Eosinophilic Pneumonia
Dyspnea, Atelectasis, Restrictive ventilatory defect, Hypersensitivity pneumonitis, Hypoxemia, Cr... ORPHA:2902
Farber Disease
Atelectasis, Intrahepatic cholestasis with episodic jaundice, Short toe, Hepatosplenomegaly, Join... ORPHA:333
Gracile Syndrome
Cholestasis, Decreased transferrin saturation, Cirrhosis, Increased circulating ferritin concentr... ORPHA:53693
Erdheim-Chester Disease
Increased bone mineral density, Dyspnea, Osteolysis, Joint swelling, Ataxia, Abnormal metaphysis ... ORPHA:35687
Juvenile Huntington Disease
Progressive cerebellar ataxia, Ataxia, Gait ataxia, Broad-based gait, Weight loss ORPHA:248111
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Rib fusion, Hyperextensible hand joints, Sagittal craniosynostosis, Hyperextensibility at elbow, ... ORPHA:500150
Autosomal Dominant Cutis Laxa
Inguinal hernia, Hip dislocation, Genu recurvatum, Wormian bones, Peripheral pulmonary artery ste... ORPHA:90348
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Gout, Hepatomegaly, Hypertriglyceridemia, Acute pancreat... ORPHA:412
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Iris coloboma ORPHA:88630
Kaposi Sarcoma
Abnormality of the liver, Abnormal lung morphology, Abnormality of the spleen, Weight loss ORPHA:33276
Leishmaniasis
Hepatomegaly, Elevated hepatic transaminase, Rhinitis, Splenomegaly, Weight loss, Hypoalbuminemia ORPHA:507
Ehlers-Danlos Syndrome, Vascular Type
Repeated pneumothoraces, Inguinal hernia, Hypermobility of interphalangeal joints, Cystocele, Pne... OMIM:130050
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Nail dysplasia, Alopecia, Nail dystrophy OMIM:242300
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatosplenomegaly, Cholestasis, Hepatic fibrosis, Elevated hepatic transaminase, Joint laxity, H... ORPHA:541423
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Bile duct proliferation, Hyperalaninemia, Elevated hepatic transaminas... OMIM:618329
Alveolar Echinococcosis
Cholangitis, Jaundice, Biliary cirrhosis, Dyspnea, Liver abscess, Ataxia, Abnormal spleen morphol... ORPHA:284
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular carcinoma, Hepatocellular adenoma, Hyperuricemia, Gout, Pancreatitis, Osteoporosis... ORPHA:79259
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Pseudomyxoma Peritonei
Respiratory insufficiency, Abnormality of the peritoneum, Hernia, Weight loss ORPHA:26790
Bronchial Neuroendocrine Tumor
Dyspnea, Increased circulating cortisol level, Nonproductive cough, Hepatomegaly, Pneumonia, Bron... ORPHA:97287
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Jaundice, Pulmonary arterial hypertension, Fatal liver failure in infancy, St... ORPHA:275761
Cataract 20, Multiple Types
Membranous cataract, Cortical cataract, Sutural cataract, Lamellar cataract OMIM:116100
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hyperaldosteronism, Dorsocervical fat pad, Increased circulating cortisol level, Osteoporosis, Hy... ORPHA:189427
Congenital Disorder Of Glycosylation, Type It
Pulmonary arterial hypertension, Dyspnea, Elevated circulating aspartate aminotransferase concent... OMIM:614921
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Osteolysis, Pathologic fracture, Osteoporosis, Portal hypertension, Hypersple... ORPHA:98850
Lymphangioleiomyomatosis
Recurrent respiratory infections, Dyspnea, Atelectasis, Restrictive ventilatory defect, Cough, Pu... ORPHA:538
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Conductive hearing impairment, Protruding ear, Alopecia, Cupped ear, Sparse eyelash... OMIM:616367
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Ataxia, Weight loss OMIM:613662
Cryptogenic Organizing Pneumonia
Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Crackles, Elevat... ORPHA:1302
Primary Lipodystrophy
Lipodystrophy, Lipoatrophy, Pancreatitis, Cirrhosis, Hyperlipidemia, Hepatic steatosis, Splenomegaly ORPHA:90970
Rhabdoid Tumor
Respiratory insufficiency, Hypercalcemia, Neoplasm of the liver, Weight loss ORPHA:69077
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Neonatal respiratory distress, Hyperammonemia, Decreased plasma free carnitine, Reduced carnitine... ORPHA:228308
Localized Junctional Epidermolysis Bullosa
Atrophic, patchy alopecia, Sparse axillary hair, Dystrophic fingernails, Dystrophic toenail, Scar... ORPHA:251393
Camurati-Engelmann Disease
Abnormality of the humerus, Slender build, Abnormal diaphysis morphology, Hepatomegaly, Cachexia,... ORPHA:1328
Familial Chylomicronemia Syndrome
Hepatosplenomegaly, Jaundice, Recurrent pancreatitis, Pulmonary embolism, Failure to thrive, Hype... ORPHA:444490
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Respiratory insufficiency, Hypoxemia, Nonproductive cough, Inc... ORPHA:723
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormal pinna morphology, Brittle hair, Alopecia, Coarse hair, Nail dystrophy ORPHA:75389
Immunodeficiency 40
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:616433
Autoimmune Hepatitis
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Diffuse hepatic steatosis, Viral hepatitis, ... ORPHA:2137
Alpha-Heavy Chain Disease
Alopecia ORPHA:100025
Autoimmune Pulmonary Alveolar Proteinosis
Dyspnea, Clubbing, Decreased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, Increased ci... ORPHA:747
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, ... ORPHA:254361
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Inability to walk, Hip dysplasia, Ataxia, Difficulty walking, Hepatomegaly, Elevated hepatic tran... OMIM:615356
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
Classic Mycosis Fungoides
Abnormality of the nail, Alopecia ORPHA:2584
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Nodular pattern on pulmonary HRCT, Dyspnea, Tachypnea,... ORPHA:79126
Amoebiasis Due To Entamoeba Histolytica
Dyspnea, Lung abscess, Liver abscess, Cough, Elevated hepatic transaminase, Elevated circulating ... ORPHA:67
Aredyld Syndrome
Craniofacial hyperostosis, Lipoatrophy, Hepatomegaly, Cachexia, Abnormal pelvic girdle bone morph... ORPHA:1133
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Ataxia, Cholestasis, Hypertyrosinemia, Elevated hepatic transaminase, Periportal fib... OMIM:124000
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Inability to walk, Gait disturbance, Cough, Tip-toe gait, Increased suscept... ORPHA:216866
Keutel Syndrome
Optic atrophy, Alopecia, Hearing impairment ORPHA:85202
Carnitine-Acylcarnitine Translocase Deficiency
Hyperammonemia, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kinase... OMIM:212138
Alport Syndrome
Recurrent corneal erosions, Abnormal corneal endothelium morphology, Sensorineural hearing impair... ORPHA:63
Leber Congenital Amaurosis 15
Optic disc pallor, Peripapillary atrophy, Posterior subcapsular cataract OMIM:613843
Spondyloocular Syndrome
Cataract, Low-set ears, Posteriorly rotated ears, Low posterior hairline, Sensorineural hearing i... OMIM:605822
Aromatase Deficiency
Eunuchoid habitus, Osteoporosis, Osteopenia, Delayed epiphyseal ossification, Hyperlipidemia, Hep... ORPHA:91
Huntington Disease
Inability to walk, Decreased body mass index, Gait disturbance, Difficulty walking, Abnormal circ... ORPHA:399
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic steatosis, Hepatic necrosis, Fulminant h... OMIM:231530
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal corneal endothelium morphology, Optic disc pallor, Posterior synechiae of the anterior c... ORPHA:364055
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Pneumothorax, Respiratory failure, Choreoathetosis ORPHA:445038
Refractory Celiac Disease
Hypoproteinemia, Hypophosphatemia, Osteoporosis, Elevated hepatic transaminase, Elevated alkaline... ORPHA:398063
Wild Type Attr Amyloidosis
Hepatomegaly, Pulmonary edema, Elevated circulating alkaline phosphatase concentration, Abnormal ... ORPHA:330001
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Weight loss ORPHA:66661
Spondylodysplastic Ehlers-Danlos Syndrome
Low-set, posteriorly rotated ears, Low-set ears, Iris coloboma, Megalocornea, Optic nerve hypopla... ORPHA:536471
Isaacs Syndrome
Hyperhidrosis, Weight loss ORPHA:84142
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Low-set ears, Protruding ear, Supernumerary nipple, Posteriorly rotated ears, Alopecia, Sensorine... ORPHA:3224
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Nail dysplasia, Corneal scarring, Alopecia, Nail dystrophy, Conjunctivitis OMIM:226600
Kury-Isidor Syndrome
Hypertrichosis, Astigmatism, Low-set ears, Alopecia OMIM:619762
Gapo Syndrome
Nail dysplasia, Protruding ear, Breast hypoplasia, Megalocornea, EEG abnormality, Hypoplastic nip... OMIM:230740
Monosomy 13Q34
Postaxial foot polydactyly, Osteochondrosis, Postaxial hand polydactyly, Hepatic steatosis, Epist... ORPHA:96168
Christianson Syndrome
Cachexia, Gait ataxia, Adducted thumb, Joint hyperflexibility, Arthrogryposis multiplex congenita... ORPHA:85278
Recurrent Respiratory Papillomatosis
Tracheomalacia, Dyspnea, Tachypnea, Atelectasis, Respiratory insufficiency, Nonproductive cough, ... ORPHA:60032
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Alopecia ORPHA:50812
Budd-Chiari Syndrome
Peritonitis, Acute hepatic failure, Jaundice, Hepatomegaly, Elevated hepatic transaminase, Cirrho... ORPHA:131
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Knee osteoarthritis, Oligoarthritis, Joint swelling, Enthesitis, Abnormal hip... ORPHA:85408
Mandibuloacral Dysplasia Progeroid Syndrome
Joint stiffness, Decreased fibular diameter, Generalized lipodystrophy, Thin ribs, Hepatomegaly, ... OMIM:619127
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Very long chain fatty acid accumulation, Difficulty walking, Hepatomegaly, ... ORPHA:98908
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal cochlea morphology, Prelingual sensorineural hearin... ORPHA:52368
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Failure to thrive in infancy, Cachexia, Osteopenia, Tapered finger, Hip contra... OMIM:616801
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Joint stiffness, Arachnodactyly, Cachexia ORPHA:1144
Seckel Syndrome 10
Elevated circulating aspartate aminotransferase concentration, Metaphyseal widening, Elevated cir... OMIM:617253
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Absent axillary hair, Sparse eyebrow, Congenital alopecia totalis, Alopecia of scalp, Absent pubi... ORPHA:2269
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Craniofacial osteosclerosis, Osteolysis, Abnormal metaphysis morphology, Abnormal sacroiliac join... ORPHA:324964
Atypical Werner Syndrome
Hip dysplasia, Generalized lipodystrophy, Rocker bottom foot, Progressive clavicular acroosteolys... ORPHA:79474
Desmoplastic Small Round Cell Tumor
Abnormality of the peritoneum, Neoplasm of the pancreas, Neoplasm of the lung, Hepatomegaly, Cach... ORPHA:83469
Asbestos Intoxication
Dyspnea, Wheezing, Late inspiratory crackles, Atelectasis, Decreased DLCO, Restrictive ventilator... ORPHA:2302
Systemic Lupus Erythematosus 17
Alopecia OMIM:301080
Combined Oxidative Phosphorylation Deficiency 12
Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated circulating ... OMIM:614924
Liver Disease, Severe Congenital
Peritonitis, Inguinal hernia, Status asthmaticus, Elevated circulating alpha-fetoprotein concentr... OMIM:619991
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Pneumothorax... ORPHA:411703
Gomez-Lopez-Hernandez Syndrome
Posteriorly rotated ears, Low-set ears, Alopecia, Opacification of the corneal stroma OMIM:601853
Primary Sclerosing Cholangitis
Cholestasis, Hepatomegaly, Abnormal biliary tract morphology, Cholelithiasis, Hepatosplenomegaly,... ORPHA:171
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia of scalp, Alopecia, Conjunctival telangiectasia, Nail dystrophy OMIM:618373
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Acute hepatic steatosis, Apnea, Failure to thrive OMIM:210200
Solitary Fibrous Tumor
Neoplasia of the pleura, Abnormality of the peritoneum, Neoplasm of the liver, Neoplasm of the lu... ORPHA:2126
Keratoderma Hereditarium Mutilans With Ichthyosis
Onychogryposis, Alopecia, Sensorineural hearing impairment, Nail dystrophy ORPHA:79395
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pancreatic islet-cell hyperplasia, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulat... ORPHA:263455
Oculocerebrocutaneous Syndrome
External ear malformation, Iris coloboma, Alopecia, Hearing impairment, Abnormal fingernail morph... ORPHA:1647
Rapp-Hodgkin Syndrome
Onychogryposis, Uncombable hair, Fine hair, Supernumerary nipple, Decreased number of sweat gland... OMIM:129400
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Umbilical hernia, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Reduced ... OMIM:608594
Full Nf2-Related Schwannomatosis
Bilateral vestibular schwannoma, Tinnitus, Cortical cataract, Facial palsy, Sensorineural hearing... ORPHA:637
Adams-Oliver Syndrome
Cataract, EEG abnormality, Aplastic/hypoplastic toenail, Alopecia, Hypoplastic fingernail, Absent... ORPHA:974
Bartsocas-Papas Syndrome
Sparse or absent eyelashes, Corneal opacity, Popliteal pterygium, Hypoplastic toenails, Aplasia/H... ORPHA:1234
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Hyperammonemia, Hyperuricemia, Ataxia, Elevated hepatic transaminase, Hepatomegaly, Apn... ORPHA:20
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Hepatomegaly, Respiratory failure, Splenomegaly, Weight loss ORPHA:3226
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Respiratory distress, Recurrent pneumonia, Hepatic steatosis, Flexion contracture, Choreo... OMIM:616271
Combined Oxidative Phosphorylation Deficiency 11
Respiratory failure, Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
Adult Syndrome
Toenail dysplasia, Nail pits, Breast hypoplasia, Hypoplastic nipples, Abnormality of the nail, Fi... ORPHA:978
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Inguinal hernia, Peripheral pulmonary artery stenosis, Bronchiectasis, Emphysema, Uterin... OMIM:123700
Monosomy 18P
Protruding ear, Abnormal antihelix morphology, Low posterior hairline, Alopecia, Macrotia ORPHA:1598
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Mucolipidosis Type Ii
Inguinal hernia, Hip dislocation, Prominent metopic ridge, Inability to walk, Abnormal long bone ... ORPHA:576
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Umbilical hernia, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Reduced ... OMIM:269700
Huntington Disease-Like 1