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Gene: Agpat2 MGI:1914762

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Gene Summary

Name:
1-acylglycerol-3-phosphate O-acyltransferase 2
Synonyms:
2510002J07Rik,  BSCL1,  LPAAT-beta

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
small testis Agpat2em1(IMPC)Ccpcz HET Early adult 0.00
enlarged stomach Agpat2em1(IMPC)Ccpcz HET Early adult 0.00
abnormal spleen morphology Agpat2em1(IMPC)Ccpcz HET Early adult 0.00
abnormal kidney morphology Agpat2em1(IMPC)Ccpcz HET Early adult 0.00
enlarged uterus Agpat2em1(IMPC)Ccpcz HET Early adult 0.00
abnormal stomach morphology Agpat2em1(IMPC)Ccpcz HET Early adult 0.00
enlarged liver Agpat2em1(IMPC)Ccpcz HET Early adult 0.00
abnormal testis morphology Agpat2em1(IMPC)Ccpcz HET Early adult 0.00
enlarged kidney Agpat2em1(IMPC)Ccpcz HET Early adult 0.00
abnormal liver morphology Agpat2em1(IMPC)Ccpcz HET Early adult 0.00
enlarged spleen Agpat2em1(IMPC)Ccpcz HET Early adult 0.00
abnormal vertebral arch morphology Agpat2em1(IMPC)Ccpcz HET   Early adult 6.16×10-05
abnormal uterus morphology Agpat2em1(IMPC)Ccpcz HET Early adult 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Agpat2 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 Agpat2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hypertrichosis, Hyperinsulinemia, Hepatic stea... ORPHA:528
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, De... OMIM:608594

The table below shows human diseases predicted to be associated to Agpat2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Gait disturbance, Hepatomegaly, Abnormal adipose tissue mor... ORPHA:2398
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Polyc... ORPHA:280356
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Aredyld Syndrome
Craniofacial hyperostosis, Mandibular prognathia, Type I diabetes mellitus, Abnormal pelvic girdl... ORPHA:1133
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Generalized ... ORPHA:2348
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Hepatosplenomegaly, Chilbl... OMIM:619858
Lipase Deficiency, Combined
Pancreatitis, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, D... OMIM:615381
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Lipoat... OMIM:613877
Acquired Partial Lipodystrophy
Insulin resistance, Generalized hirsutism, Lipoatrophy, Hepatic steatosis ORPHA:79087
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hypertrichosis, Hyperinsulinemia, Hepatic stea... ORPHA:528
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Abnormal dental morphology, Abnormal toenail morphology, Hypodontia, Aplasia/Hy... ORPHA:1818
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Gait ataxia, Hepatic steatosis, ... ORPHA:363400
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyp... OMIM:248370
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage... OMIM:617610
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Abdominal distention, Thick low... OMIM:246200
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Micrognathia, Narr... OMIM:608612
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... OMIM:151660
Obesity Due To Prohormone Convertase I Deficiency
Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adr... ORPHA:71526
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Increased LDL cholesterol concentration, Obesity, Type II diabetes mellitus, ... OMIM:615703
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Premature graying of hair, Micrognathia, Reduced subcut... ORPHA:280365
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Atrophic scars, Nail dystrophy, Oral mucosal blisters, Enamel hypoplasia, Anonychi... ORPHA:79405
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Decreased serum lept... OMIM:615238
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Lipodystrophy, Diabetes mellitus, Hepatic steatosis OMIM:615980
Ddost-Cdg
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Hepatic steatos... ORPHA:300536
Transient Neonatal Diabetes Mellitus
Macroglossia, Abnormality of the urinary system, Maturity-onset diabetes of the young, Failure to... ORPHA:99886
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... OMIM:608709
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Abnormal tongue morphology, Insulin-resistant diabetes ... ORPHA:2457
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... ORPHA:276556
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Sparse lateral eyebrow, Hepatitis, Enamel hypoplasia, Thick vermilion border ORPHA:363523
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin, Absence of subcutaneous fat, Reduced subcutaneous adipose t... ORPHA:90160
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Short Syndrome
Insulin resistance, Abnormality of the dentition, Alopecia, Abnormal mandible morphology, Abnorma... ORPHA:3163
Proteasome-Associated Autoinflammatory Syndrome 5
Fever, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:619175
Microcephalic Primordial Dwarfism, Montreal Type
Carious teeth, Premature graying of hair, Open bite, Micrognathia, Alopecia of scalp, Cryptorchid... ORPHA:2617
Graft Versus Host Disease
Inflammatory abnormality of the skin, Diarrhea, Hepatosplenomegaly, Oral ulcer, Elevated circulat... ORPHA:39812
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum,... OMIM:222100
Short Syndrome
Insulin resistance, Radial deviation of finger, Dental malocclusion, Downturned corners of mouth,... OMIM:269880
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Perlman Syndrome
High, narrow palate, Retrognathia, Abnormal pancreas morphology, Abnormal upper lip morphology, M... ORPHA:2849
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Generalized lipodystrophy, Ge... OMIM:608154
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Loss of subcutaneous adipose tissue from upper limbs, Loss of facial adipose tissue, Progressive ... OMIM:613913
Ruijs-Aalfs Syndrome
Clinodactyly, Premature graying of hair, Elbow flexion contracture, Hypogonadism, Micrognathia, D... OMIM:616200
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Hydatidiform Mole
Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Alg3-Cdg
Decreased liver function, Abnormal circulating enzyme concentration or activity, Abnormality of t... ORPHA:79321
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Microretrognathia, Advanced ossification of carpal bones, Short femoral neck, Toot... OMIM:618363
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Conical tooth, Alopecia, Coarse hair, Small nail, Widely spaced tee... OMIM:613573
Cystinosis
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Polydipsia, Fever, Failure to thrive, Porta... ORPHA:213
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Nail dystrophy, Oral mucosal blisters, Hypodontia, Patchy... OMIM:226650
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
48,Xyyy Syndrome
Male hypogonadism, Long philtrum, Thick lower lip vermilion, Dislocated radial head, Radioulnar s... ORPHA:99329
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, De... OMIM:608594
Insulin-Like Growth Factor I, Resistance To
Small hand, Clinodactyly, Micrognathia, Narrow mouth, Reduced subcutaneous adipose tissue, High p... OMIM:270450
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Micrognathia, Narr... ORPHA:1979
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Absence of subcutaneous fat, Reduced subcutaneous adipose t... ORPHA:90159
Caudal Duplication
Abnormal penis morphology, Intestinal duplication, Uterus didelphys, Cryptorchidism, Bifid sacrum... ORPHA:1756
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... ORPHA:79083
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atypical scarring of skin, Sparse eyebrow, Testicular torsion, Atrophic scars, Abnormality of pri... ORPHA:75496
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Keratitis, Nail dystrophy, Increased connective tissue, Nail dysplasia, Punctate k... OMIM:226670
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Atrophic scars, Nail dystrophy, Oral mucosal blisters, Scarring alopecia of sca... ORPHA:79402
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Alopecia, Carious teeth, Hip dislocation, Generalized hypoplasia of dental enamel, Cutaneous fing... OMIM:203550
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Alopecia, Sparse eyebrow, Hepatic failure, Cholestasis, Portal hypertension, Sp... OMIM:607626
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration,... OMIM:613327
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Diarrhea, Keratoconjunctivitis, Iridocyclitis, Hypoparathyroidism, Female hypogonadism, Atrophic ... OMIM:240300
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Lipodystrophy, Congenital Generalized, Type 2
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, De... OMIM:269700
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta, Alopecia of scalp, Trichodysplasia ORPHA:79129
Familial Multiple Lipomatosis
Insulin resistance, Premature eruption of permanent teeth, Bowing of the long bones, Lipodystroph... ORPHA:199276
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline... ORPHA:79086
Cockayne Syndrome Type 2
Male hypogonadism, Widely spaced primary teeth, Hypoplasia of the primary teeth, Cryptorchidism, ... ORPHA:90322
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct proliferation, Renal... OMIM:208540
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Generalized microdontia, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Carious teeth, Coarse hair, Long philtrum, Narrow mouth, Inguinal her... OMIM:219200
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Ane Syndrome
Alopecia, Carious teeth, Adrenocorticotropin deficient adrenal insufficiency, Decreased response ... ORPHA:157954
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Progeroid Syndrome, Petty Type
Short distal phalanx of finger, Mandibular prognathia, Umbilical hernia, Tooth agenesis, Abnormal... ORPHA:2963
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Aplasia/hypoplasia of the uterus, Azoospermia, Vertebral segmentation defect, Sho... ORPHA:2578
Rabson-Mendenhall Syndrome
Insulin-resistant diabetes mellitus, Premature graying of hair, Reduced subcutaneous adipose tiss... ORPHA:769
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atypical scarring of skin, Sparse pubic hair, Dystrophic toenail, Atrophic, p... ORPHA:251393
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Nausea... ORPHA:402823
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Finger swelling, Splenomegaly, Skin rash... OMIM:617591
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Abnormal dental enamel morphology, Cholestasis, Portal hyperten... ORPHA:59303
Mody
Nephropathy, Insulin-resistant diabetes mellitus, Hyperglycemia, Abnormality of the kidney, Eleva... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Blepharophimosis-Impaired Intellectual Development Syndrome
Feeding difficulties, Cryptorchidism, Sparse eyelashes, Talipes equinovarus, Sparse eyebrow, Gast... OMIM:619293
Stiff Skin Syndrome
Gastroesophageal reflux, Elbow flexion contracture, Knee flexion contracture, Lipodystrophy, Camp... OMIM:184900
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender long bones with narrow diaphyses, Generalized lipodystrophy, Dense metaphyseal bands ORPHA:50811
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Nail dystrophy, Oral mucosal blisters, Anonychia, Enamel hypoplasia ORPHA:79406
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hyperactivity, Ataxia OMIM:615924
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... OMIM:615382
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Hyperglycemia, Cryptorchi... OMIM:175700
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Ascites, Absent frontal sinuses, Hypodontia, ... OMIM:253250
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Elevated circulating aspartate aminotransferase concentration, Malar flatte... OMIM:614727
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Lipoatrophy ORPHA:141184
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... OMIM:619868
Acrogeria
Small hand, Fine hair, Micrognathia, Short foot, Lipoatrophy ORPHA:2500
Central Diabetes Insipidus
Polydipsia, Fever, Failure to thrive, Nocturia, Hyponatremia, Lethargy, Weight loss, Anorexia, Di... ORPHA:178029
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy, Membranoproliferative glomerulonephritis OMIM:305800
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adren... OMIM:619386
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Drug-Induced Localized Lipodystrophy
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy ORPHA:90157
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:369
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,... ORPHA:79237
Trichodental Dysplasia
Conical tooth, Fine hair, Hypodontia, Slow-growing hair, Brittle hair, Sparse hair, Odontodysplasia OMIM:601453
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Umbi... ORPHA:95717
Inflammatory Pseudotumor Of The Liver
Vomiting, Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormalit... ORPHA:90003
Hall-Riggs Syndrome
Thick lower lip vermilion, Hypoplasia of the primary teeth, Feeding difficulties in infancy, Enam... OMIM:234250
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Alopecia universalis, Subperiosteal bone resorption, Carious tee... OMIM:277440
Whipple Disease
Insulin resistance, Gastrointestinal hemorrhage, Polydipsia, Fever, Anorexia, Splenomegaly, Hypon... ORPHA:3452
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Micrognathia, Aplasia/Hypoplasia of the eyebrow, Thin vermilion border, Short philtrum, Sparse ha... ORPHA:261304
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... OMIM:617885
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Ascites, Splenomegaly, Lipodystrophy, Hepatomegaly, Wide mouth, Hip dislocation OMIM:608776
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Cardiomegaly, Enamel hypoplasia, Sparse hair, Syndactyly OMIM:613576
Aa Amyloidosis
Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Cholestasis, Adrenal... ORPHA:85445
Peroxisome Biogenesis Disorder 10A (Zellweger)
Micrognathia, Epiphyseal stippling, Hepatomegaly, High palate, Feeding difficulties OMIM:614882
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoketotic hypoglycemia, Hy... ORPHA:263455
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Fe... OMIM:617872
Rapp-Hodgkin Syndrome
Carious teeth, Velopharyngeal insufficiency, Small nail, Supernumerary nipple, Recurrent otitis m... OMIM:129400
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Flexion contracture, Downturned corners of mouth, Hyperglycemia OMIM:618856
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Short neck, Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged ki... OMIM:613885
Rubinstein-Taybi Syndrome 2
Narrow palate, Highly arched eyebrow, Carious teeth, Dental malocclusion, Retrognathia, Broad thu... OMIM:613684
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Fanconi-Bickel Syndrome
Nephropathy, Hypophosphatemia, Elevated circulating alanine aminotransferase concentration, Hepat... ORPHA:2088
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Wolman Disease
Reduced lysosomal acid lipase activity, Vomiting, Adrenal calcification, Acute hepatic failure, S... OMIM:620151
H Syndrome
Alopecia, Bronchiectasis, Cleft upper lip, Hypertrichosis, Hypogonadism, Decreased testicular siz... ORPHA:168569
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Macroglossia, Multiple lipomas, Lipodystrophy, Talipes equinovarus OMIM:151800
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:159
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Elevated circulating thyroid-stim... ORPHA:226313
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... ORPHA:2924
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Atrophic scars, Nail dystrophy, Nail dysplasia, Enamel hypoplasia, Syndactyly OMIM:226700
17Q11.2 Microduplication Syndrome
Sparse eyebrow, Abnormal dental enamel morphology, Malar flattening, Sparse eyelashes, Enamel hyp... ORPHA:139474
Poems Syndrome
Visceromegaly, Increased circulating prolactin concentration, Hypertrichosis, Ascites, Hypogonadi... ORPHA:2905
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Prostate canc... ORPHA:157798
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Adiposis Dolorosa
Painful subcutaneous lipomas, Constipation, Abdominal distention OMIM:103200
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Hemophagocytic Lymphohistiocytosis, Familial, 4
Fever, Recurrent fever, Increased circulating ferritin concentration, Hemophagocytosis, Splenomeg... OMIM:603552
Dental Ankylosis
Abnormal dental enamel morphology, Clinodactyly of the 5th finger, Mandibular prognathia, Tooth a... ORPHA:1077
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Dicarboxylic aciduria, Hypothermi... OMIM:615026
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Temple Syndrome
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Decreased testicular size,... OMIM:616222
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Odontochondrodysplasia
Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Delayed eruption of teeth, ... ORPHA:166272
Filippi Syndrome
2-4 toe syndactyly, Frontal hirsutism, Finger clinodactyly, Hypertrichosis, Serrated incisors, Ab... OMIM:272440
Cimdag Syndrome
Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly, Feed... OMIM:619273
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypoglycemia, Methylmalonic aciduria, Elevated circulating aspartate aminotran... OMIM:245400
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hepatitis, Recurrent fever, Increased circu... OMIM:300635
Odontochondrodysplasia 1
Mesomelia, Dentinogenesis imperfecta, Metaphyseal cupping, Delayed eruption of teeth, Long philtr... OMIM:184260
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Acute leukemia, Hypogonadism, Abnormal stomach morphology, Renal insuf... ORPHA:281090
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity, Hepatic steatosis, Polyphagia, Red hair OMIM:620195
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Increased circulating prolactin concentration, Hyperglycemia, Hypothermia, ... ORPHA:293987
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc... ORPHA:26792
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Pseudohypoparathyroidism, Enamel hypoplasia, Brachydactyly, Short meta... OMIM:612463
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Low anterior hairline, Delayed puberty, Hyperinsulinemi... OMIM:616033
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel mo... ORPHA:2325
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Carious teeth, Sparse eyebrow, Folliculitis, Keratitis, Nail dystrophy, Sparse eyelashe... OMIM:612843
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Ketonuria, G... ORPHA:2089
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
High palate, Enamel hypoplasia, Retrognathia, Feeding difficulties OMIM:617915
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype... OMIM:278000
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Failur... ORPHA:90674
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Abnormality of the uterus, Horseshoe kidney, Vesico... OMIM:617805
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Elevated c... ORPHA:95716
Congenital Disorder Of Glycosylation, Type Iil
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati... OMIM:614576
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Retrognathia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Lipodystro... OMIM:212112
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Absence of subcutaneous fat, Reduced subcutaneous adipose t... ORPHA:90158
Proteasome-Associated Autoinflammatory Syndrome 1
Hypoplastic scapulae, Finger swelling, Premature graying of hair, Recurrent otitis media, Chronic... OMIM:256040
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Hepatic failure, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis, Gastric varix, ... OMIM:613490
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
48,Xxyy Syndrome
Carious teeth, Open bite, Type II diabetes mellitus, Cryptorchidism, Radioulnar synostosis, Feedi... ORPHA:10
Congenital Pancreatic Cyst
Vomiting, Anorexia, Abdominal pain, Pancreatitis, Abdominal distention, Jaundice ORPHA:313906
Citrullinemia Type Ii
Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Restlessness, Hypoproteinemia, Hyperac... ORPHA:247585
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Renal tubular dysfu... OMIM:606528
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Decreased circulating free T4 concentration, Attention deficit hyperactiv... OMIM:301033
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Elevated circulating parathyroid ... OMIM:264700
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Obesity, Renal insufficiency, Polyphagia, Truncal obesity OMIM:615986
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Pycnodysostosis
Small hand, Carious teeth, Hypoplastic iliac wing, Hepatosplenomegaly, Micrognathia, Delayed erup... ORPHA:763
Werner Syndrome
Insulin resistance, Abnormal hair whorl, Small hand, Chondrocalcinosis, Rocker bottom foot, Neopl... ORPHA:902
Cranioectodermal Dysplasia 1
Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Everted lower lip vermilion, Thin... OMIM:218330
Fucosidosis
Abnormality of the dentition, Abnormality of the gallbladder, Cardiomegaly, Hypothyroidism, Hepat... ORPHA:349
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... ORPHA:93111
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Gait disturbance, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... ORPHA:75234
Congenital Disorder Of Glycosylation, Type Ih
Diarrhea, Vomiting, Long philtrum, Decreased liver function, Cholestasis, Ascites, Decreased circ... OMIM:608104
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridem... OMIM:607616
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Autosomal Agammaglobulinemia
Cellulitis, Bronchiectasis, Diarrhea, Hepatitis, Osteomyelitis, Malabsorption, Skin rash, Arthrit... ORPHA:33110
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Hereditary Central Diabetes Insipidus
Polydipsia, Fever, Lethargy, Weight loss, Diabetes insipidus ORPHA:30925
Thyroid Hemiagenesis
Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ... ORPHA:95719
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Downturned corners of mouth, Small nail, Eczematoid dermatitis, Exocr... OMIM:617052
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Cone-shaped epiphysis, Delayed eruption of teeth ORPHA:71267
3-Hydroxy-3-Methylglutaric Aciduria
Recurrent hypoglycemia, Hypothermia, Lipid accumulation in hepatocytes, Weight loss, Anorexia, At... ORPHA:20
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, D... OMIM:619048
Intellectual Disability, Birk-Barel Type
High, narrow palate, Highly arched eyebrow, Foot joint contracture, Nasogastric tube feeding, Mic... ORPHA:166108
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Carious teeth, Coarse hair, Long philtrum, Inguinal hernia, Malar fla... ORPHA:357074
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Nephronophthisis-Like Nephropathy 2
Polydipsia, Recurrent fever, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:619468
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Short neck, Pancreatic fibrosis, Hepat... OMIM:200995
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Clinodactyly, Micrognathia, Narrow mouth, Sparse hair, Slender finger, Downturned corners of mout... ORPHA:391408
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Proteasome-Associated Autoinflammatory Syndrome 4
Generalized lipodystrophy, Splenomegaly, Myositis, Hepatomegaly, Flexion contracture, Panniculitis OMIM:619183
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci... ORPHA:90301
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Delayed eruption of teeth, Bowing of the legs, Micrognathia, Narrow mo... OMIM:613849
Stimmler Syndrome
Abnormal dental enamel morphology, Type II diabetes mellitus, Microdontia ORPHA:3199
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Panniculitis, Bronchi... ORPHA:60
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Volvulus, Abnormality of the uterus, Recurrent urinary... ORPHA:2970
Cranioectodermal Dysplasia
Abnormality of the dentition, Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abno... ORPHA:1515
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Elevated circulating parathyroid ... ORPHA:289157
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Atopic dermatitis, Dental malocclusion, Thin upper lip vermilion, Ach... OMIM:619719
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Graves disease, Polydipsia, Failure to t... ORPHA:525731
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... OMIM:619855
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypergl... ORPHA:465508
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Myoglobinuria, Cirrhos... ORPHA:264580
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Kaposiform Lymphangiomatosis
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Hepatosplenomegaly, Abnormal t... ORPHA:464329
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Fever, Recurrent fever, Increased circulating ferritin concentration, Hemophagocytosis, Hepatospl... OMIM:613101
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated gamma-glutamyltransferase level, Diarrhea, Recurrent hypoglycemia, Cholestasis, Acute he... OMIM:256810
X-Linked Agammaglobulinemia
Cellulitis, Alopecia, Recurrent pneumonia, Hepatitis, Osteomyelitis, Malabsorption, Skin rash, Ch... ORPHA:47
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Enamel hypoplasia, Downturned corners of mouth, Brachydactyly ORPHA:2643
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth, Nail dystrophy, Dystrophic fingernails, Scarring alopecia of s... OMIM:619787
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Protein-losing enteropathy, Proximal tubulopa... OMIM:602579
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive OMIM:601410
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy ORPHA:154
Proteasome-Associated Autoinflammatory Syndrome 2
Clinodactyly, Neutrophilic infiltration of the skin, Skin rash, Lipodystrophy, Brachydactyly OMIM:618048
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Beta-Ketothiolase Deficiency
Ketonuria, Fever, Hypoglycemia, Anorexia, Hyperglycemia, Thrombocytosis, Leukocytosis, Hyperammon... ORPHA:134
Braddock-Carey Syndrome 1
Small hand, Clinodactyly, Curly hair, Talipes equinovarus, Enamel hypoplasia, Everted lower lip v... OMIM:619980
Hepatitis, Fulminant Viral, Susceptibility To
Gingival bleeding, Type I diabetes mellitus, Hepatic failure, Elevated circulating hepatic transa... OMIM:618549
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Malar flattening, Hypodontia, Radioulnar synostosis, Enamel hypoplasi... OMIM:212780
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Gastroesophageal reflux, Hepatitis, Clinodactyly, Slender long bone, Hy... OMIM:613385
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Fever, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia OMIM:608898
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ... ORPHA:42
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, V... OMIM:614921
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Type II diabetes me... OMIM:210720
Portal Hypertension, Noncirrhotic, 1
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat... OMIM:617068
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Pili Torti
Abnormality of the dentition, Alopecia, Abnormal dental enamel morphology, Abnormal eyebrow morph... ORPHA:2889
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... ORPHA:363417
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Dentinogenesis imperfecta, Short foot, Upper limb undergrowth ORPHA:166277
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Parathyroid Carcinoma
Abnormal parathyroid morphology, Hypophosphatemia, Weight loss, Dysphagia, Polydipsia, Pancreatic... ORPHA:143
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu... ORPHA:35878
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta, Slender long bone, Decreased circulating osteocalcin level, Bowing of ... OMIM:619795
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Renal agenesis, Abnormality of the vertebral column, Azoospermia, Hypo... OMIM:601076
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Congenital Short Bowel Syndrome
Sparse hair, Lipoatrophy ORPHA:2301
Progeria-Short Stature-Pigmented Nevi Syndrome
Insulin-resistant diabetes mellitus, Micrognathia, Hepatic steatosis, Low posterior hairline, Dec... ORPHA:2959
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Subungual hyperkeratosis, Carious teeth, Yellow-brown discoloration... ORPHA:69087
Analbuminemia
Lipodystrophy OMIM:616000
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Trichohepatoenteric Syndrome 2
Diarrhea, Trichorrhexis nodosa, Chronic hepatitis, Chronic diarrhea, Woolly hair, Cirrhosis, Unco... OMIM:614602
Congenital Disorder Of Glycosylation, Type Iih
Clinodactyly of the 3rd toe, Finger clinodactyly, Elevated circulating aspartate aminotransferase... OMIM:611182
Scarf Syndrome
Long philtrum, Umbilical hernia, Inguinal hernia, Cryptorchidism, Low posterior hairline, Short s... ORPHA:3134
Barber-Say Syndrome
Velopharyngeal insufficiency, Micrognathia, Cryptorchidism, Sparse eyelashes, Talipes equinovarus... OMIM:209885
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Celiac Disease, Susceptibility To, 1
Alopecia, Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Ecze... OMIM:212750
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis... OMIM:615710
Centrifugal Lipodystrophy
Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Absence of subcutaneous fat, Reduc... ORPHA:90156
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Malnutrition, Atrophic scars, Corneal scarring, Narrow mouth, Nail dystrophy, Oral muco... OMIM:226600
C3 Glomerulopathy
Lipodystrophy, Membranoproliferative glomerulonephritis ORPHA:329918
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... OMIM:616516
Sjogren-Larsson Syndrome
Abnormal hair morphology, Flexion contracture, Enamel hypoplasia, Abnormality of the nail OMIM:270200
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypogonadism, Splenome... OMIM:613313
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Carious teeth, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Conic... OMIM:614564
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Anemia, Cir... OMIM:606069
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Gitelman Syndrome
Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Tubulointerstitial nephriti... ORPHA:358
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Ridged fingernail, Thin toenail, Delayed eruption of... ORPHA:2228
East Syndrome
Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, ... ORPHA:199343
Qazi-Markouizos Syndrome
High, narrow palate, Small nail, Open mouth, Cryptorchidism, Chronic constipation, Broad philtrum... ORPHA:3010
Cockayne Syndrome Type 1
Abnormality of the dentition, Male hypogonadism, Elevated circulating hepatic transaminase concen... ORPHA:90321
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Diaphanospondylodysostosis
Unossified sacrum, Delayed vertebral ossification, Nephrogenic rest, Horseshoe kidney, Nephroblas... OMIM:608022
X-Linked Hypophosphatemia
Cellulitis, Upper limb metaphyseal widening, Shortening of the talar neck, Flattening of the tala... ORPHA:89936
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia OMIM:240800
Oculoskeletodental Syndrome
Short 5th finger, Abnormality of the dentition, Abnormality of the frontal hairline, Retrognathia... ORPHA:557003
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Ora... ORPHA:199306
Weaver Syndrome
Broad thumb, Retrognathia, Long philtrum, Camptodactyly of finger, Abnormal fingernail morphology... ORPHA:3447
Sialuria
Long philtrum, Long hallux, Inguinal hernia, Splenomegaly, Hirsutism, Thin upper lip vermilion, S... OMIM:269921
Hamamy Syndrome
Micrognathia, Cryptorchidism, Sparse eyelashes, Low posterior hairline, Everted lower lip vermili... OMIM:611174
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Abdominal distention, Hypertrichosis, Pancreatic lymphangiectasis, Ascites, Micr... OMIM:235255
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Delayed ... ORPHA:94089
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Seckel Syndrome 5
Retrognathia, Selective tooth agenesis, Micrognathia, Cryptorchidism, Oligodontia, Hypodontia, En... OMIM:613823
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Hepatome... OMIM:219800
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Feeding difficulties OMIM:609975
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta, Rhizomelia, Bowing of the arm, Bowing of the legs OMIM:301014
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Alpha-Mannosidosis
Craniofacial hyperostosis, Dental malocclusion, Widely spaced teeth, Open bite, Gingival overgrow... ORPHA:61
Alg9-Cdg
Diarrhea, Micrognathia, Low posterior hairline, Talipes equinovarus, Broad ischia, Hepatomegaly, ... ORPHA:79328
Immunodeficiency 104
Gastroesophageal reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia OMIM:608971
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hypoglycemia, Hepatic steatosis, Renal steatosis, Impaired gluconeogenesis OMIM:261650
Hyperparathyroidism-Jaw Tumor Syndrome
Abnormal parathyroid morphology, Hypophosphatemia, Parathyroid adenoma, Dysphagia, Polydipsia, Pa... ORPHA:99880
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Cyan... OMIM:261680
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Abnormality of the dentition, Alopecia, Abnormal fingertip morphology, Short ... ORPHA:90154
Complement Component 4B Deficiency
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Chron... OMIM:614379
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Acute myeloid leukemia, N... ORPHA:158057
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Delayed eruption of teeth, Elevated circulating t... OMIM:612462
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Kleine-Levin Syndrome
Polydipsia, Fever, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive beh... ORPHA:33543
Combined Oxidative Phosphorylation Deficiency 54
Microretrognathia, Hyperglycemia, Feeding difficulties, Thin vermilion border, Retrobulbar optic ... OMIM:619737
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormal dental morphology ORPHA:1653
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Short toe, Delayed eruption of teeth, Short finge... OMIM:103580
Reni Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogl... OMIM:617575
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o... OMIM:170390
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... OMIM:620357
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Hydronephrosis, Tracheoesopha... OMIM:314390
Macrocephaly-Intellectual Disability-Autism Syndrome
Preaxial hand polydactyly, Thyroid carcinoma, Hepatic steatosis, Multiple lipomas, Foot polydacty... ORPHA:210548
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypothermia, Hypoglycemia, 2-ethylhydracylic aciduria OMIM:610006
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Renal Glucosuria
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria OMIM:233100
Orofaciodigital Syndrome I
Carious teeth, Dry hair, Clinodactyly, Ankyloglossia, Ovarian cyst, High palate, Sparse hair, Syn... OMIM:311200
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Polydipsia, Elevated circulating parathyroid hormone level, Failure to thrive, Spl... OMIM:239200
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Incre... ORPHA:189427
Developmental And Epileptic Encephalopathy 36
Small hand, Microretrognathia, Hepatomegaly, Flexion contracture, Feeding difficulties OMIM:300884
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Polyphagia, Obesity ORPHA:329249
Chronic Mucocutaneous Candidiasis
Hepatitis, Abnormal lip morphology, Abnormal dental enamel morphology, Abnormal fingernail morpho... ORPHA:1334
Microphthalmia, Syndromic 12
Intestinal malrotation, Bicornuate uterus, Cryptorchidism, Cleft palate OMIM:615524
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Gait di... OMIM:618400
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Diarrhea, Abdominal distention, Projectile vomiting, High pala... OMIM:620045
Congenital Syphilis
Pneumonia, Diarrhea, Keratitis, Hyperplasia of the maxilla, Hypoglycemia, Hepatosplenomegaly, Mal... ORPHA:499009
Achondrogenesis, Type Ib
Hypoplastic ilia, Abdominal distention, Micromelia, Umbilical hernia, Malar flattening, Inguinal ... OMIM:600972
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... OMIM:232220
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Polydipsia, Failure to thrive, Renal insufficiency, Abnormality of circulating ... ORPHA:320
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Failure to thri... ORPHA:17
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Bicornuate uterus, Cleft palate OMIM:258320
Osteogenesis Imperfecta, Type V
Hyperextensibility of the finger joints, Dentinogenesis imperfecta, Abnormal pelvic girdle bone m... OMIM:610967
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Generalized hirsutism, Narrow palat... ORPHA:3019
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Seckel Syndrome 1
Ivory epiphyses, Dental malocclusion, Dental crowding, Selective tooth agenesis, Dislocated radia... OMIM:210600
Sepsis In Premature Infants
Temperature instability, Oliguria, Fever, Decreased liver function, Functional abnormality of the... ORPHA:90051
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Short toe, Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Crypt... ORPHA:3085
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Hyperb... OMIM:609734
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Hepatome... OMIM:203800
Necrotizing Enterocolitis
Temperature instability, Ascites, Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Cyan... ORPHA:391673
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Villous atrophy, Hyperlipidemia, ... OMIM:615863
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Duodenal stenosis, Horseshoe kidne... ORPHA:2470
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Temple Syndrome
Precocious puberty, Bifid uvula, Recurrent hypoglycemia, Decreased response to growth hormone sti... ORPHA:254516
Mandibuloacral Dysplasia Progeroid Syndrome
Decreased fibular diameter, Generalized lipodystrophy, Dysplasia of the femoral head, Micrognathi... OMIM:619127
Short Stature, Dauber-Argente Type
Delayed eruption of teeth, Fasting hyperinsulinemia, Decreased fibular diameter, Arachnodactyly, ... OMIM:619489
Septo-Optic Dysplasia Spectrum
Polydipsia, Obesity, Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Maternal diab... ORPHA:3157
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the teeth OMIM:104510
Tyrosinemia, Type I
Hepatic failure, Elevated circulating hepatic transaminase concentration, Nephrocalcinosis, Eleva... OMIM:276700
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, G... OMIM:227810
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Long philtrum, Umbilical hernia, Wide distal femoral metaphysis, Long ... OMIM:614856
Snijders Blok-Campeau Syndrome
Umbilical hernia, Widely spaced teeth, Inguinal hernia, Taurodontia, Enamel hypoplasia, High pala... OMIM:618205
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Inguinal hernia, Cryptorchidism, Microdontia, Hypodontia, Sparse hair ORPHA:1174
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Sparse hair, D... OMIM:606721
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Dicarbo... OMIM:212140
Axial Mesodermal Dysplasia Spectrum
Abnormal localization of kidney, Gastroesophageal reflux, Abnormality of the urinary system, Abno... ORPHA:1834
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch... ORPHA:79301
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Ascites, Azoospermia, Splenomegaly, Card... OMIM:235200
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple... ORPHA:263501
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, High palate ORPHA:254531
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Psoriasiform dermatitis, Interface hepatitis, Intestinal obstruction, Hypoplasia of... OMIM:243150
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade... OMIM:619375
Achondrogenesis Type 1A
Micromelia, Long philtrum, Umbilical hernia, Micrognathia, Abdominal distention, Femoral hernia, ... ORPHA:93299
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:613404
Trehalase Deficiency
Diarrhea, Vomiting, Abnormal circulating enzyme concentration or activity, Malabsorption, Abdomin... ORPHA:103909
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal large intestine morphology, Ascite... ORPHA:2198
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Unsteady gait, Type II diabetes mellitus OMIM:520000
Huntington Disease
Decreased body mass index, Abnormal circulating cholesterol concentration, Oral-pharyngeal dyspha... ORPHA:399
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Kyphosis, Enlarged kidney, Nephroblastoma OMIM:618272
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Protein-losing enteropathy, Failu... ORPHA:79319
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Smith-Magenis Syndrome
Abnormality of the urinary system, Head-banging, Velopharyngeal insufficiency, Abnormality of the... OMIM:182290
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Clinodactyly, Syndactyly, Brachydactyly, Osteolysis involving bones of the upper limbs,... ORPHA:88630
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Polycystic liver disease, Elevated circulating alkaline phosphatase concentration, Abdom... OMIM:174050
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Long philtrum, Umbilical hernia, Cholestasis, Pancreatic hypoplasia,... OMIM:610199
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... ORPHA:543
48,Xxxy Syndrome
Carious teeth, Open bite, Type II diabetes mellitus, Cryptorchidism, Talipes equinovarus, Radioul... ORPHA:96263
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Skin rash, Chronic diarrhea, Lipodystrophy, Abdominal pain, Panniculitis OMIM:617099
Familial Chylomicronemia Syndrome
Acute pancreatitis, Failure to thrive, Increased circulating chylomicron concentration, Hepatospl... ORPHA:444490
Hall-Riggs Syndrome
Coarse hair, Abnormal epiphysis morphology, Delayed eruption of teeth, Downturned corners of mout...