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Gene: Mbd5 MGI:2138934

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Gene Summary

Name:
methyl-CpG binding domain protein 5
Synonyms:
OTTMUSG00000012483,  9430004D19Rik,  C030040A15Rik

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
preweaning lethality, complete penetrance Mbd5tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased exploration in new environment Mbd5tm1b(EUCOMM)Wtsi HET Early adult 6.37×10-07
short tibia Mbd5tm1b(EUCOMM)Wtsi HET Early adult 1.55×10-05
decreased locomotor activity Mbd5tm1b(EUCOMM)Wtsi HET   Early adult 2.00×10-05
decreased leukocyte cell number Mbd5tm1b(EUCOMM)Wtsi HET Early adult 4.96×10-05
decreased lymphocyte cell number Mbd5tm1b(EUCOMM)Wtsi HET Early adult 2.80×10-05
abnormal lip morphology Mbd5tm1b(EUCOMM)Wtsi HET Early adult 1.08×10-05
decreased total retina thickness Mbd5tm1b(EUCOMM)Wtsi HET Early adult 8.68×10-08

Download data as:  TSV  XLS

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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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Mbd5 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 Mbd5 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 1
Depressed nasal ridge, Retrognathia, Bulbous nose, Prominent nose, Micrognathia, Short columella,... OMIM:156200
2Q23.1 Microdeletion Syndrome
Ataxia, Sandal gap, Tented upper lip vermilion, Everted lower lip vermilion, Hip dysplasia, Clino... ORPHA:228402

The table below shows human diseases predicted to be associated to Mbd5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... ORPHA:314811
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty, Short stature, Growt... ORPHA:314802
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... ORPHA:293964
Acid-Labile Subunit Deficiency
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Delayed puberty, Mild postna... OMIM:615961
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Transient Neonatal Diabetes Mellitus
Failure to thrive, Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Intraut... ORPHA:99886
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Hypoglycemia, Decreased serum insulin-like growth factor 1, Reduced circula... OMIM:262400
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Severe postnatal growth retardation, Hyp... OMIM:262700
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decre... ORPHA:453533
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Intrauterine growth retardation, Hypoglycemia OMIM:223500
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Pyknoachondrogenesis
Stillbirth OMIM:265880
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... ORPHA:552
Aids Wasting Syndrome
Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration ORPHA:90081
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Excessive insu... ORPHA:324575
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Difficulty walkin... ORPHA:93323
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71526
Aredyld Syndrome
Type I diabetes mellitus, Sparse body hair, Abnormal dental enamel morphology, Intrauterine growt... ORPHA:1133
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ... OMIM:615925
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Decreased testicular size, Postna... OMIM:616113
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Delayed puberty, Abdominal obesity, Short stature, Neonatal hypoglyc... ORPHA:631
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypertrichos... OMIM:262190
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Fa... OMIM:617872
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia ORPHA:366
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycem... OMIM:620211
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Large for gesta... ORPHA:276580
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Decreased circulat... OMIM:600955
Mulibrey Nanism
Short stature, Intrauterine growth retardation, Cachexia, Hepatomegaly ORPHA:2576
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Postnatal growth retardation, Decreased body weight, Short stature, Neonatal hypogl... ORPHA:231140
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... ORPHA:1972
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Pituitary adenoma, Increased ci... ORPHA:300373
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Reduced subcutaneo... ORPHA:1979
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypoglycemic seizures, Hypogonadism, Panh... OMIM:262600
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Decreased circulating ACTH c... ORPHA:95619
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Failure to thrive, Hypopituitarism, Decreased circulating free T4 concentration, Decreased circul... OMIM:613038
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Alopecia, Central adrenal insufficiency, Reduced subcutaneous adipose tiss... OMIM:612079
Moynahan Syndrome
Alopecia, Hypogonadism, Cachexia, Short stature, Sparse hair ORPHA:2574
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ... OMIM:300148
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Isolated Growth Hormone Deficiency, Type Iv
Severe short stature, Decreased response to growth hormone stimulation test, Decreased serum insu... OMIM:618157
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Large for gesta... ORPHA:276575
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, I... OMIM:619048
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Small for gestational age, Hypoglycemia ORPHA:231147
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Large for gestational age, Excessiv... ORPHA:276556
Diarrhea 13
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Re... OMIM:620357
Orofaciodigital Syndrome Viii
Median cleft upper lip, Syndactyly, Short tibia, Polydactyly OMIM:300484
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia, Hypogonadism, Long eyelashes, Growth delay ORPHA:163693
Endocardial Fibroelastosis
Anterior hypopituitarism, Cryptorchidism, Hypoglycemia ORPHA:2022
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Abdominal ob... OMIM:618160
Ane Syndrome
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Decreased serum testosterone conce... ORPHA:157954
Renpenning Syndrome
Severe short stature, Alopecia, Abnormal hairshaft morphology, Growth delay, Thin eyebrow, Decrea... ORPHA:3242
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Prolonged n... ORPHA:226307
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... ORPHA:42
Isolated Growth Hormone Deficiency, Type Ii
Severe short stature, Decreased response to growth hormone stimulation test, Pituitary dwarfism, ... OMIM:173100
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Flynn-Aird Syndrome
Alopecia, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gl... ORPHA:2047
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Hyperglycemia, Intrauterine growth retardation, Diabetes me... OMIM:613370
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Combined Oxidative Phosphorylation Deficiency 47
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Intraut... OMIM:618958
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Fine hair, Hypoglycemia, Postnatal growth retardation, Long eyelashes, Sh... ORPHA:231137
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Cryptorchidism, Hypothyroidism, Del... ORPHA:95496
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Intrauteri... OMIM:231100
Glucocorticoid Deficiency 1
Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin... OMIM:202200
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... OMIM:613027
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Failure to thrive, Hypoglycemia ORPHA:67048
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Central hypothyroidism, Failure ... ORPHA:398079
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Failure to thrive, Hypoglycemia, Hypogonadism, Postnatal growth retardation, ... ORPHA:73272
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis ORPHA:26792
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Diencephalic Syndrome
Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreased body weight ORPHA:1672
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Growth delay, Ectopic anterior pituitary gland, Hypoglycemia, Hypopi... ORPHA:90695
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Weight loss, Abnormal peritoneum mor... ORPHA:2126
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Hypoglycemia OMIM:616111
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Hepatic fibrosis, Hypertrichosis, Cholestasis, Po... OMIM:246200
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Short stature, Grow... OMIM:261750
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... ORPHA:90003
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Intrauterine growth retardation, ... OMIM:601410
Sheehan Syndrome
Decreased serum estradiol, Sparse pubic hair, Secondary growth hormone deficiency, Adrenocorticot... ORPHA:91355
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hepatomegaly, Small for ge... ORPHA:79237
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentration, Elev... ORPHA:94086
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Recurrent hypog... ORPHA:293978
Silver-Russell Syndrome
Premature adrenarche, Precocious puberty, Insulin resistance, Recurrent hypoglycemia, Failure to ... ORPHA:813
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Attention deficit hyperactivity disorder OMIM:615401
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Adrenocorticotropic hormone excess, Weight lo... ORPHA:100083
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:617950
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatome... OMIM:232400
Craniopharyngioma
Growth delay, Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesi... ORPHA:54595
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Central hypothyroidism, Failure to thrive, Hypogonadis... ORPHA:398069
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena... OMIM:201400
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98754
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Increased ... ORPHA:71529
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Orofaciodigital Syndrome Ix
Toe syndactyly, Short tibia, Retinal coloboma, Median cleft upper lip, Hand polydactyly, Camptoda... OMIM:258865
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98793
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177901
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Polyc... ORPHA:280356
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... ORPHA:231720
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Fine hair, Hypoglycemia, Intrauterine growth retardation, Dorsocervical fat pad, Low anterior hai... ORPHA:391408
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Aromatic L-Amino Acid Decarboxylase Deficiency
Failure to thrive, Hypoglycemia, Increased circulating prolactin concentration, Joint contracture... ORPHA:35708
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Short humerus, Short ribs, Thin upper lip vermilion, Talipes... OMIM:607143
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Small for gestational age, Hypoglycemia,... OMIM:615160
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Combined Malonic And Methylmalonic Acidemia
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia ORPHA:289504
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased liver function, ... OMIM:246900
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Intrauterine growth retardation, Hypogonadotropic hypogonadism, Finger joint contra... ORPHA:48431
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Pituitary Hormone Deficiency, Combined, 3
Decreased response to growth hormone stimulation test, Pituitary dwarfism, Gonadotropin deficienc... OMIM:221750
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Hypogonadotropic hypogonadism, Delayed puberty, Cryptorchidism OMIM:612702
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Alopecia, Sparse pubic hair, Sparse eyebrow, De... ORPHA:2232
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, I... OMIM:245400
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hepatomegaly... OMIM:306000
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Generalized hirsutism, Weight loss, Abnormal testis morpholog... ORPHA:317
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Large for ... ORPHA:263455
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Septo-Optic Dysplasia Spectrum
Obesity, Cryptorchidism, Maternal diabetes, Anterior pituitary hypoplasia, Short stature, Diabete... ORPHA:3157
Mcdonough Syndrome
Short stature, Cachexia, Cryptorchidism, Synophrys ORPHA:2471
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc... OMIM:619386
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Failure to thrive OMIM:612075
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Short tibia, Synostosis of carpal bones, Finger synda... ORPHA:1106
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo... ORPHA:2394
Wolman Disease
Hepatic failure, Adrenal calcification, Adrenal insufficiency, Splenomegaly, Cachexia, Hepatomega... ORPHA:75233
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Alexander Disease Type I
Cachexia, Failure to thrive, Abnormal thalamic MRI signal intensity ORPHA:363717
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia ORPHA:157973
Laron Syndrome
Severe short stature, Hypoglycemia, Delayed puberty, Truncal obesity, Abnormality of the endocrin... ORPHA:633
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly ORPHA:5
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Subcutaneous lipoma, In... OMIM:131100
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... OMIM:201910
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Hypoglycemia, Intrauterine growth retardation, Neonatal death, Decrease... OMIM:618835
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Postnatal growth retard... OMIM:606407
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Hypoglycemia, Intrauterine growth retardation, Neonatal death, Decrease... OMIM:618839
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypog... ORPHA:95494
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Growth delay, Failure to thrive, Glycosuria, Elevate... ORPHA:2088
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Large for gest... OMIM:616026
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Intrauterine growth retardation, Small for gestational age, Failure to thrive OMIM:614702
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Elevated circul... OMIM:261680
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia, Postnatal growth retardation, Intrauterine growth retardation, Inguinal hernia, Cry... ORPHA:397590
Cog2-Cdg
Small pituitary gland, Decreased liver function ORPHA:435934
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism OMIM:614880
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland, Elevated circulating hepatic transaminase concentration OMIM:617395
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Testicula... OMIM:180860
Fg Syndrome Type 1
Small pituitary gland, Umbilical hernia, Slender build, Frontal upsweep of hair, Inguinal hernia,... ORPHA:93932
Deeah Syndrome
Decreased response to growth hormone stimulation test, Panhypopituitarism, Intrauterine growth re... OMIM:619004
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Hypoglycemia, Decreased liver func... OMIM:617093
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia ORPHA:364
Adrenocortical Carcinoma
Increased circulating cortisol level, Hypertrichosis, Increased urinary cortisol level, Hyperaldo... ORPHA:1501
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... OMIM:601559
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Thick eyebrow, Short stature, Fasting hypo... ORPHA:436174
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Ankle flexion contracture, Hypoglycemia OMIM:618120
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cryptorch... ORPHA:79239
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Recurrent hypoglycemia, Intrauterine growth retardation, Cryptorchidism, Hypothyroidis... OMIM:616817
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Intrauterine growth retardation, Hypoglycemia OMIM:618838
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Splenomegaly, Dystrophic fingernails, Patchy alop... ORPHA:2930
Riboflavin Transporter Deficiency
Hypogonadism, Cachexia, Diabetes insipidus ORPHA:97229
Ziegler-Huang Syndrome
Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Elevated circulating follicle stim... OMIM:620501
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a... ORPHA:168782
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Hypogonadotropic hypogonadism, Cachexia,... ORPHA:298
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive, Fasting hyperinsuline... ORPHA:71212
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Inab... ORPHA:356961
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Prolonged neonatal jaundice, Decr... ORPHA:199296
Joubert Syndrome 38
Ectopic posterior pituitary, Small pituitary gland, Decreased response to growth hormone stimulat... OMIM:619476
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Intrauterine growth retardation, Cachexia, Hip contracture OMIM:616801
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Christianson Syndrome
Cachexia, Thick eyebrow, Arthrogryposis multiplex congenita ORPHA:85278
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Decreased ser... ORPHA:67045
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly, Hypoglycemia ORPHA:664
Pulmonary Blastoma
Weight loss ORPHA:64741
Carnitine Deficiency, Systemic Primary
Failure to thrive, Recurrent hypoglycemia, Elevated circulating aspartate aminotransferase concen... OMIM:212140
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Failure to thrive, Graves disease, Adrenocorticotrop... ORPHA:199299
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Pancreatic And Cerebellar Agenesis
Failure to thrive, Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipo... OMIM:609069
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Focal T2 hyperintense thalamic lesion, Neonatal hypoglycemia, Failure to thrive OMIM:619046
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hypoglycemia OMIM:620137
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Intrauterine growth retardation, Diabetes mellitus, Smal... OMIM:606176
Tenorio Syndrome
Hypoinsulinemia, Thick eyebrow, Hypoglycemia, Hypertrichosis OMIM:616260
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Diabetes insipidus, Short stature, Anterio... OMIM:182230
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity ORPHA:369873
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Rabson-Mendenhall Syndrome
Insulin-resistant diabetes mellitus, Premature graying of hair, Reduced subcutaneous adipose tiss... ORPHA:769
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Acute h... OMIM:615453
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase... OMIM:617049
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia, Bilateral cryptorchidism, Increased circulating ACTH level,... OMIM:607398
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv... ORPHA:90791
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Whipple Disease
Insulin resistance, Splenomegaly, Cachexia, Hypothyroidism, Hepatomegaly ORPHA:3452
11Q22.2Q22.3 Microdeletion Syndrome
Depressed nasal bridge, Obesity, Micrognathia, Short attention span, Attention deficit hyperactiv... ORPHA:444002
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia OMIM:614739
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Silver-Russell Syndrome 2
Short stature, Intrauterine growth retardation, Neonatal hypoglycemia OMIM:618905
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... OMIM:268305
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss, Testicular neoplasm, Abnormal peritoneum morphology, Hepatomegaly, Ovarian... ORPHA:83469
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:913
Galactose Epimerase Deficiency
Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay ORPHA:79238
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Sparse hair, Small for gestational age, Hypoglycemia OMIM:618253
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Cachexia, Limb joint contracture, Flexion contracture, Arthrogryposis multiplex c... OMIM:618186
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Elbow flexion contracture, Intrauterine growth retardation, Knee flexion contracture, Hip contrac... ORPHA:371364
Smith-Kingsmore Syndrome
Rhizomelia, Hypoglycemia, Umbilical hernia, Large for gestational age, Cryptorchidism, Curly hair OMIM:616638
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Tetrasomy 12P
Cachexia, Sparse eyebrow, Sparse hair, Short stature ORPHA:884
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism, Adrenocorticotrop... OMIM:615926
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an... ORPHA:444463
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Generalized hirsutism, Cachexia, Short stature ORPHA:1933
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia, Thyroid carcinoma, Hashimoto thyroiditis, Cachexia, Short stature, Lipoma, Neoplasm... ORPHA:109
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Fulminant hepatic failure, Hypogly... OMIM:231530
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Failure to thrive, Intrauterine growth r... ORPHA:217346
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ... ORPHA:90790
Cog8-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia ORPHA:95428
Propionic Acidemia
Failure to thrive, Hypoglycemia, Hepatomegaly, Pancreatitis, Short stature OMIM:606054
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia ORPHA:79096
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Mandibuloacral Dysplasia
Insulin resistance, Alopecia, Increased subcutaneous truncal adipose tissue, Contractures of the ... ORPHA:2457
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Attenuation of retina... OMIM:616959
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevate... OMIM:256810
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Vipoma
Intrahepatic cholestasis, Elevated circulating calcitonin concentration, Follicular thyroid carci... ORPHA:97282
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia ORPHA:156
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp... OMIM:614921
Malonyl-Coa Decarboxylase Deficiency
Short stature, Hypoglycemia OMIM:248360
Immunodeficiency, Common Variable, 10
Hypoglycemia, Decreased response to growth hormone stimulation test, Alopecia totalis, Central ad... OMIM:615577
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Jaundice, Elevated circulating hepatic transaminase concentration, Hypogly... OMIM:616483
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Hirsutism, Hypothyroidism, Join... OMIM:618005
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Cleft upper lip, Preaxial polydactyly, Acetabular spurs... OMIM:613091
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating hepatic transaminase concentration, ... OMIM:600649
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:210200
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
Thymic Neuroendocrine Tumor
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... ORPHA:97289
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat... ORPHA:91347
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... ORPHA:2495
Long-Olsen-Distelmaier Syndrome
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:620609
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... ORPHA:56305
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Chromosome 14Q11-Q22 Deletion Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Bilateral cryp... OMIM:613457
Somatostatinoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Subcutaneous l... ORPHA:97283
Bachmann-Bupp Syndrome
Hypoglycemia, Large for gestational age, Cryptorchidism, Sparse eyelashes, Absent eyebrow, Sparse... OMIM:619075
Bent Bone Dysplasia Syndrome 2
Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing... OMIM:620076
Majeed Syndrome
Failure to thrive, Splenomegaly, Cachexia, Weight loss, Hepatomegaly, Flexion contracture ORPHA:77297
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hyp... OMIM:616300
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Hypogly... OMIM:201450
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Hepa... ORPHA:37042
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Glucose intolerance, Polycystic ovar... OMIM:615363
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hyperglycemia, Portal hypertension, Splenomegaly, Hyp... ORPHA:465508
Short Syndrome
Severe short stature, Insulin resistance, Alopecia, Abnormal dental enamel morphology, Inguinal h... ORPHA:3163
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy... OMIM:615849
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... ORPHA:2751
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Hypogonadism, Decreased testicular size, Obesity, Inguinal hernia, Cache... ORPHA:85293
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Facial hypertrichosis, Central hypothyroidism, Fa... ORPHA:508
Neurodegeneration And Seizures Due To Copper Transport Defect
Talipes equinovarus, Lethargy, Short tibia, Short femur OMIM:620306
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Optic neuritis, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoglycemia, Elbow contracture, Umbilical hernia, Intrauterine growth retardation, Inguinal hernia OMIM:620275
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Failure to thrive, Glycosuria, Postnatal gr... OMIM:227810
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Neonatal death, Neonatal hypogl... OMIM:619055
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Hypertrichosis, Long eyelashes, Anterior pituitary hypoplasia, Pituitary hypothyroidism, Synophrys OMIM:619983
Primary Myelofibrosis
Hepatosplenomegaly, Portal hypertension, Splenomegaly, Cachexia, Hepatomegaly ORPHA:824
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... OMIM:151660
Congenital Disorder Of Glycosylation, Type Iie
Failure to thrive, Hypoglycemia, Hypertrichosis, Decreased liver function, Elevated circulating a... OMIM:608779
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Mirage Syndrome
Hypoglycemia, Decreased testicular size, Adrenal insufficiency, Intrauterine growth retardation, ... OMIM:617053
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Isolated Exencephaly
Posterior pituitary agenesis, Maternal diabetes, Anterior pituitary hypoplasia ORPHA:563612
Glutaric Acidemia I
Hepatomegaly, Failure to thrive, Hypoglycemia OMIM:231670
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Pancreatitis, Failure to thrive, Hypoglycemia OMIM:251000
Isolated Complex I Deficiency
Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Hepatomegaly, Diabetes mellitus ORPHA:2609
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Hsd10 Disease
Short attention span, Choreoathetosis, Abnormal social behavior, Ataxia ORPHA:391417
Bullous Pemphigoid
Weight loss, Diabetes mellitus ORPHA:703
Idiopathic Achalasia
Weight loss ORPHA:930
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Camptodactyly of finger ORPHA:2774
Xfe Progeroid Syndrome
Severe short stature, Elevated circulating hepatic transaminase concentration, Failure to thrive,... OMIM:610965
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Hypoglycemia, Polysplenia, Failur... OMIM:619418
Poems Syndrome
Increased circulating prolactin concentration, Hypertrichosis, Hypogonadism, Leukonychia, Primary... ORPHA:2905
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... ORPHA:2634
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elevated circulating aspar... OMIM:605911
Laryngotracheoesophageal Cleft Type 4
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia ORPHA:93941
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Mesomelia, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly,... OMIM:263520
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Weight loss, Increased circulating free T4... OMIM:275000
Addison Disease
Thymoma, Type I diabetes mellitus, Failure to thrive, Androgen insufficiency, Hypoglycemia, Adren... ORPHA:85138
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hypoglycemia OMIM:616355
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl... ORPHA:3320
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatomegaly, Delayed pube... OMIM:232200
Acute Adrenal Insufficiency
Failure to thrive, Androgen insufficiency, Hypoglycemia, Increased circulating ACTH level, Primar... ORPHA:95409
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Hepatom... OMIM:212138
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... OMIM:227270
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Short stature ORPHA:702
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Hepatic steatosis, Neonatal death, Hepatom... OMIM:231680
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormal peritoneum morphology ORPHA:2023
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Cholestasis, Elevated... OMIM:609015
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Incre... ORPHA:189427
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Ketotic hypoglycemia, Failure to thrive OMIM:620646
Combined Oxidative Phosphorylation Deficiency 37
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Decreas... OMIM:618329
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Microvesi... OMIM:611126
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... ORPHA:96334
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Bulging epiphyses, Rickets of the lower limbs, Genu valgum, Fibu... OMIM:600785
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo... OMIM:617156
D-Glyceric Aciduria
Growth delay, Failure to thrive, Hypoglycemia OMIM:220120
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... OMIM:619846
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Intrauterine growth retardation, Hypoglycemia OMIM:617710
Acromelic Frontonasal Dysplasia
Hypopituitarism, Anterior pituitary hypoplasia, Midline central nervous system lipomas, Cryptorch... ORPHA:1827
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia, Chorioretinal coloboma ORPHA:1116
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Increased circulating T4 concentration, Weight loss, Increased circulating free T4 concen... OMIM:613239
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Fasting... ORPHA:348
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexio... OMIM:248370
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Weight loss, Hypoglycemia ORPHA:134
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Mitochondrial Trifunctional Protein Deficiency 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:620300
Immunodeficiency 10
Hepatomegaly, Amelogenesis imperfecta, Splenomegaly, Hypoglycemia OMIM:612783
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... OMIM:119800
Reni Syndrome
Hypoglycemia, Hypogonadism, Adrenal insufficiency, Cryptorchidism, Hypothyroidism OMIM:617575
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... ORPHA:786
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Premature adrenarche, Precocious puberty, Insulin resistance, Failure to thrive, Decreased respon... ORPHA:96182
Shashi-Pena Syndrome
Highly arched eyebrow, Hypoglycemia, Hypertrichosis, Long eyelashes, Intrauterine growth retardat... OMIM:617190
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
2-3 toe syndactyly, Lymphopenia, Thin vermilion border, Irritability ORPHA:391307
Glucagonoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Subcutaneous l... ORPHA:97280
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Neonatal hypoglycemia OMIM:617600
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Flexion contracture, Disproportionate short-limb short stature, Hypertrich... OMIM:619479
Maple Syrup Urine Disease, Type Ia
Pancreatitis, Hypoglycemia OMIM:248600
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:86893
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight, Decreased s... OMIM:608747
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... ORPHA:91349
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Basilicata-Akhtar Syndrome
Camptodactyly, Neonatal hypoglycemia, Precocious puberty OMIM:301032
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc... ORPHA:1333
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Hepatosplenomegaly, Reduced subcutaneous adipose tissue, Hip contracture, Cryptorchi... OMIM:619503
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Postnatal growth retardation, Intrauterine ... ORPHA:2177
Hereditary Central Diabetes Insipidus
Weight loss, Growth delay, Diabetes insipidus ORPHA:30925
Cockayne Syndrome
Severe short stature, Dry hair, Congenital contracture, Contractures of the large joints, Fine ha... ORPHA:191
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Coarse hair, Sparse eyelashes, Severe postnatal growth retardation, Patchy alopec... ORPHA:35173
X-Linked Creatine Transporter Deficiency
Short stature, Cachexia ORPHA:52503
Huntington Disease-Like 2
Weight loss ORPHA:98934
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Nonketotic hypoglycemia, Hepatom... OMIM:201475
Medullary Thyroid Carcinoma
Pheochromocytoma, Nodular goiter, Medullary thyroid carcinoma, Weight loss, Abnormal liver parenc... ORPHA:1332
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Failure to thrive, Hypoglycemia OMIM:251110
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cone/cone-rod dystrophy, Hypoplastic inferior ilia, Short metacarpal, Optic disc coloboma, Retina... OMIM:608940
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Cholestasis, Hypoketotic hypoglycemia, Chronic hepatic failure, Hyp... ORPHA:746
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Thick lower lip vermilion, Lon... OMIM:600002
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemi... ORPHA:228305
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elbow flexion contracture,... OMIM:608836
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Failure to thriv... ORPHA:289548
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:275761
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... ORPHA:97278
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Upper-limb joint contracture, Cachexia ORPHA:300605
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Neonatal hypoglycemia, Cryptorchidism, Curly hair ORPHA:457485
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Failure to thriv... ORPHA:168558
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Long eyelashes, Neonatal hypoglycemia, Broad lateral eyebrow, Obesity OMIM:608624
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Celiac Disease, Susceptibility To, 1
Alopecia, Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Fail... OMIM:212750
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Micrognathia, Short humerus, Fibular hyp... OMIM:258315
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... ORPHA:99901
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Immunodeficiency 59 And Hypoglycemia
High anterior hairline, Hypoglycemia, Prolonged neonatal jaundice, Hepatomegaly, Short stature OMIM:233600
Kabuki Syndrome 2
Highly arched eyebrow, Sparse lateral eyebrow, Postnatal growth retardation, Long eyelashes, Intr... OMIM:300867
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyebrow, Failure to thrive, Hypoketotic hypoglycemia, Sparse eyelashes OMIM:610768
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pancreatic hypoplasia, Glycosuri... ORPHA:99885
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Tyrosinemia, Type I
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo... OMIM:276700
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Cleft upper ... OMIM:603671
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Nail dystrophy OMIM:175500
Aica-Ribosiduria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Lenz-Majewski Hyperostotic Dwarfism
Failure to thrive, Elbow flexion contracture, Intrauterine growth retardation, Inguinal hernia, K... OMIM:151050
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Weight loss ORPHA:2198
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
Rett Syndrome
Short stature, Cachexia OMIM:312750
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hepatomegaly... OMIM:232220
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Obesity, Intrauterine growth retardation, ... ORPHA:177907
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Failure to thrive, Hypoglycemia OMIM:210210
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Tibial Hemimelia
Absent tibia OMIM:275220
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Intrauterine growth retardation, Elevated circulating hepatic transaminase concentration, Hepatic... OMIM:619355
Seckel Syndrome 10
Severe short stature, Insulin resistance, Elevated circulating luteinizing hormone level, Acute p... OMIM:617253
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Frontal balding, Weight loss, Neonatal hypoglycemia, Abnormal circulating d... ORPHA:90794
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... OMIM:124000
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Breast hypoplasia, Intrauterine growth retardation, Cryptorchidism, Multiple j... ORPHA:464306
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia, Decreased response to growth hormone stimulation test, Thick eyebrow, Central adren... OMIM:616007
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br... OMIM:223800
Dilated Cardiomyopathy With Ataxia
Elevated circulating hepatic transaminase concentration, Bilateral cryptorchidism, Intrauterine g... ORPHA:66634
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Elevated circulating hepatic transaminase concentration, Failure to th... OMIM:613658
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Radial bowing, Ulnar deviated club hands, Fibular hypoplasia, Co... OMIM:164900
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... ORPHA:26791
Trisomy 18
Camptodactyly of finger, Intrauterine growth retardation, Congenital diaphragmatic hernia, Crypto... ORPHA:3380
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Glycerol Kinase Deficiency
Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Cryptorchid... OMIM:307030
Hypercalcemia, Infantile, 1
Weight loss, Decreased circulating parathyroid hormone level, Failure to thrive OMIM:143880
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Hypothyroidism, Neona... ORPHA:445038
Saul-Wilson Syndrome
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr... OMIM:618150
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Short ribs, Postaxial polyda... OMIM:617925
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Seckel Syndrome
Abnormal dental enamel morphology, Intrauterine growth retardation, Cachexia, Short stature, Spar... ORPHA:808
Leigh Syndrome
Alopecia, Hepatic failure, Failure to thrive, Hypoglycemia, Hypertrichosis, Intrauterine growth r... ORPHA:506
Grfoma
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... ORPHA:97261
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Failure to thrive, Hypoglycemia, Hepatic steatosis, Polycystic ovaries, In... ORPHA:79259
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Obesity, Hypoketotic hypoglycemia, Hepat... ORPHA:26793
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Failure to thrive, Hernia, Weight loss, Hepatomegaly, Severe short-limb dwarfism ORPHA:1842
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Hepatic failure, Increased circulating cortisol level, Increased circu... ORPHA:97287
Infantile Krabbe Disease
Cachexia, Failure to thrive ORPHA:206436
48,Xxxy Syndrome
Depressed nasal ridge, Carious teeth, Delayed eruption of teeth, Abnormal dental enamel morpholog... ORPHA:96263
Hirschsprung Disease
Failure to thrive in infancy, Weight loss, Short stature, Neoplasm of the thyroid gland ORPHA:388
Chronic Hiccup
Weight loss ORPHA:396
Lymphangiectasia, Intestinal
Lymphopenia, Pedal edema OMIM:152800
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, Hypoglycemia, Umbilical hernia, Obesity, Hepatosplenomegaly, ... OMIM:301066
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Umbilical hernia, Abnormal eyebrow morphology, Decreased testicular... ORPHA:800
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Hypoglycemia, Umbilical hernia OMIM:614501
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Micrognathia, Tented upper l... OMIM:164745
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Mu-Heavy Chain Disease
Hepatomegaly, Weight loss, Splenomegaly ORPHA:100024
Sotos Syndrome
Sparse eyebrow, High anterior hairline, Glucose intolerance, Cryptorchidism, Increased body weigh... OMIM:117550
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Failure to thrive in infancy, Abnormal circulating aldosterone, Increased circula... ORPHA:171876
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemi... ORPHA:159
Perlman Syndrome
Hypoglycemia, Large for gestational age, Congenital diaphragmatic hernia, Pancreatic islet-cell h... OMIM:267000
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Confusion, Ataxia, Dementia, Semantic dementia, Abnormal social behavior ORPHA:1020
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Neonatal hypoglycemia, Congenital foot contractures, Cryptorchidism ORPHA:565624
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Lipid accumulati... ORPHA:20
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Intrauterine growth retardation, Hepatic steatosis, Flexion contracture, Neonatal hyp... OMIM:616271
Reticular Dysgenesis
Weight loss, Failure to thrive, Aplasia/Hypoplasia of the thymus ORPHA:33355
Pseudomyxoma Peritonei
Hernia, Weight loss, Abnormal peritoneum morphology ORPHA:26790
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Postnatal growth retardat... OMIM:616263
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Compensated hypothyroidism, Elevated circulating hepatic transaminase conc... ORPHA:480864
Isaacs Syndrome
Weight loss ORPHA:84142
Hemochromatosis, Type 3
Anemia, Lymphopenia, Neutropenia OMIM:604250
Wilson Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa... ORPHA:905
Alg12-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent hypoglycemi... ORPHA:79324
Microsporidiosis
Abnormality of the parathyroid gland, Hepatitis, Abnormality of the spleen, Biliary tract abnorma... ORPHA:2552
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Isolated Arrhinia
Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Hy... ORPHA:1134
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Micrognathia, Eosinophilia, Im... OMIM:617237
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Premature thelarche, Hypot... OMIM:616878
Central Diabetes Insipidus
Weight loss, Failure to thrive, Diabetes insipidus ORPHA:178029
Cartilage-Hair Hypoplasia
Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process, Metaphyseal cupping, ... OMIM:250250
Holoprosencephaly
Highly arched eyebrow, Hypoglycemia, Failure to thrive in infancy, Panhypopituitarism, Abnormalit... ORPHA:2162
Amyotrophic Lateral Sclerosis
Cachexia ORPHA:803
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:246450
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Neuroendocrin... ORPHA:100085
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Atypical pulm... ORPHA:100080
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Hepatic... ORPHA:17
Pleural Mesothelioma
Hepatomegaly, Weight loss ORPHA:50251
Kyphomelic Dysplasia
Radial bowing, Micromelia, Flared metaphysis, Cleft upper lip, Dumbbell-shaped humerus, Micrognat... OMIM:211350
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Contracture of the proximal interphalangeal joint of the 4th toe, Hypoglycemia, Supernumerary nipple ORPHA:457279
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Cachexia, Abnormality of the thyroid gland ORPHA:1969
Pfapa Syndrome
Hepatomegaly, Weight loss, Splenomegaly ORPHA:42642
Microphthalmia, Syndromic 3
Postnatal growth retardation, Cryptorchidism, Hypogonadotropic hypogonadism, Hypothalamic hamarto... OMIM:206900
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Mast Cell Sarcoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:66661
Shigellosis
Hepatic failure, Hypoglycemia, Failure to thrive in infancy, Cholestasis, Peritonitis, Splenic ab... ORPHA:810
Camurati-Engelmann Disease
Hypogonadism, Slender build, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Cachexi... ORPHA:1328
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Immunodeficiency 31C
Growth delay, Splenomegaly, Hepatomegaly, Hypothyroidism, Weight loss, Delayed puberty, Short sta... OMIM:614162
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Weight... ORPHA:171
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Cognitive impairment, Long fibula, Anemia, Abnormal metaphysis morphology ORPHA:935
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Follicular Lymphoma
Weight loss, Splenomegaly, Abnormal peritoneum morphology ORPHA:545
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Glycosuria, Failure to thrive, Hypoglyce... OMIM:229600
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of... OMIM:108720
Metachromatic Leukodystrophy, Adult Form
Depression, Memory impairment, Progressive psychomotor deterioration, Chorea, Short attention spa... ORPHA:309271
Pyruvate Carboxylase Deficiency
Failure to thrive, Hypoglycemia, Hyperglycemia, Hepatomegaly, Growth delay ORPHA:3008
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Menkes Disease
Sparse hair, Atypical scarring of skin, Chondrocalcinosis, Hypoglycemia, Umbilical hernia, Intrau... ORPHA:565
Pgm3-Cdg
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Decreased/absent an... ORPHA:443811
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Intrauterine growth retardation, Knee flexion contracture, Proportionate sh... ORPHA:3208
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Lymphopenia, Narrow greater sc... OMIM:617425
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Abnormal T cell morphology, Autoimmune hemolytic anemia, Ataxia, Decreased proportio... ORPHA:760
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Cryptorchidism, Hypoglycemia, Low anterior hairline OMIM:620224
Lamb-Shaffer Syndrome
Micrognathia, Broad nasal tip, Abnormal social behavior, Ataxia ORPHA:530983
14Q22Q23 Microdeletion Syndrome
Cryptorchidism, Adrenal hypoplasia, Anterior pituitary hypoplasia, Short stature, Diabetes insipi... ORPHA:264200
Huntington Disease-Like 2
Weight loss OMIM:606438
Glycogen Storage Disease Ic
Hypoglycemia, Chronic pancreatitis, Hepatoblastoma, Delayed puberty, Hepatomegaly, Hepatocellular... OMIM:232240
Acquired Hypertrichosis Lanuginosa
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of h... ORPHA:2221
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Failure to thrive, Hypoglycemia, Splenomegaly, Hepatomegaly, Growth delay OMIM:252010
Neurooculorenal Syndrome
Ectopic posterior pituitary, Highly arched eyebrow, Central hypothyroidism, Recurrent hypoglycemi... OMIM:620305
X-Linked Agammaglobulinemia
Cellulitis, Alopecia, Failure to thrive, Hepatitis, Weight loss, Short stature ORPHA:47
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ... ORPHA:958
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Rhizomelic arm shortening, Lymphopenia, Leukopenia, Short humerus, Reticulocytopenia, B lymphocyt... ORPHA:508542
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Atypical pulm... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Atypical pulm... ORPHA:100082
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Cachexia ORPHA:220295
Hereditary Fructose Intolerance
Reactive hypoglycemia, Chronic hepatic failure, Hepatomegaly, Jaundice, Growth delay ORPHA:469
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Sparse lateral eyebrow, Elbow fl... OMIM:181450
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatic fibrosis, Biliary cirrhosis, Failure to thrive, Cholestasis, Elevated circulating asparta... OMIM:619534
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Neutropenia, Short long bone, Anemia, Schistocytosis, Thrombocytopenia, ... OMIM:301110
Oculodentodigital Dysplasia
Fine hair, Camptodactyly of finger, Umbilical hernia, Abnormal dental enamel morphology, Hypoglyc... ORPHA:2710
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Congenital Syphilis
Hypoglycemia, Intrauterine growth retardation, Hepatosplenomegaly, Pancreatitis, Prolonged neonat... ORPHA:499009
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Talipes equinovarus, Neutropenia OMIM:619752
Juvenile Polyposis Of Infancy
Short stature, Cachexia, Subcutaneous lipoma ORPHA:79076
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Clinodactyly, Lymphopenia, Pes cavus, Dysmetria, Gait disturbance, Limb undergr... OMIM:616541
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Intrauterine growth retardation, Nail dystrophy, Abnormality of the anteri... ORPHA:75389
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia OMIM:619767
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta... ORPHA:53035
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi... ORPHA:131
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hypoglycemia OMIM:615751
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
3-Methylglutaconic Aciduria, Type Viii
Failure to thrive, Neonatal death, Jaundice, Neonatal hypoglycemia, Growth delay OMIM:617248
Chilton-Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Aplasia of the right hemidiaphragm... OMIM:619841
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Splenomegaly, Ca... ORPHA:2072
Orofaciodigital Syndrome X
Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly OMIM:165590
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Jaundice, Growth delay ORPHA:79282
Hydrolethalus Syndrome 1
Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Median cleft u... OMIM:236680
Fibrochondrogenesis 1
Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones, Fibular hypop... OMIM:228520
Beckwith-Wiedemann Syndrome
Abnormal pancreas morphology, Umbilical hernia, Hypoglycemia, Exocrine pancreatic insufficiency, ... ORPHA:116
Juvenile Huntington Disease
Weight loss ORPHA:248111
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycemia, Decreased liver function, Hypoglycemia OMIM:620423
Histiocytoid Cardiomyopathy
Hepatomegaly, Failure to thrive, Hypoglycemia, Polycystic ovaries ORPHA:137675
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati... ORPHA:400
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati... ORPHA:100075
Prolactinoma
Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... ORPHA:2965
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Occipital Horn Syndrome
Aplastic clavicle, Humerus varus, Genu valgum, Avascular necrosis of the capital femoral epiphysi... ORPHA:198
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Cholestasis, Primary hypothyroidism, Weight loss, Grow... ORPHA:95427
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Failure to thrive, Supernumerary nipple, Bilateral cryptorchidism, Slender build, Cryptorchidism,... ORPHA:466791
Classic Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:391
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hepatic failure, Hepatic calcification ORPHA:157
Combined Oxidative Phosphorylation Deficiency 58
Hypoglycemia OMIM:620451
Nijmegen Breakage Syndrome
Abnormal hair morphology, Low anterior hairline, Cachexia, Abnormal hair quantity, Short stature ORPHA:647
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Goiter OMIM:188580
Eosinophilic Fasciitis
Cellulitis, Weight loss, Fasciitis ORPHA:3165
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss, Growth delay OMIM:266600
Anaplastic Thyroid Carcinoma
Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter ORPHA:142
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi, Abnormal pituitary gland morphology ORPHA:643
Vici Syndrome
Hypopigmentation of the fundus, Everted upper lip vermilion, Ocular albinism, Cleft upper lip, Ly... OMIM:242840
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Panniculitis, Weight loss, Splenomegaly ORPHA:33577
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Short attention span, Emotional lability, Progressive gait... ORPHA:309263
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... ORPHA:99889
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Neutropenia OMIM:620443
Leishmaniasis
Hepatomegaly, Weight loss, Splenomegaly, Elevated circulating hepatic transaminase concentration ORPHA:507
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe... OMIM:208500
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:619487
Immunodeficiency 27A
Hepatosplenomegaly, Weight loss, Splenomegaly OMIM:209950
Rhabdoid Tumor
Neoplasm of the liver, Weight loss ORPHA:69077
Norrie Disease
Failure to thrive, Cryptorchidism, Cachexia, Delayed puberty, Diabetes mellitus ORPHA:649
Attrv30M Amyloidosis
Weight loss ORPHA:85447
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Panniculitis, Weight loss ORPHA:86884
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... ORPHA:251937
Primary Fanconi Renotubular Syndrome
Weight loss, Growth delay, Glycosuria, Hypoglycemia ORPHA:3337
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Weight loss ORPHA:33276
Non-Functioning Paraganglioma
Weight loss, Paraganglioma, Paraganglioma of head and neck ORPHA:94080
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatic calcification, Hepatomegaly ORPHA:228308
Wars2-Related Combined Oxidative Phosphorylation Defect
Intrauterine growth retardation, Neonatal hypoglycemia ORPHA:572798
Simpson-Golabi-Behmel Syndrome
Hypoglycemia, Camptodactyly of finger, Supernumerary nipple, Umbilical hernia, Polysplenia, Ingui... ORPHA:373
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Cholera
Hypoglycemia ORPHA:173
Chondrodysplasia Punctata, Autosomal Dominant
Knee flexion contracture, Hypoplasia of the nasal bone, Hip contracture OMIM:118650
Intellectual Developmental Disorder, Autosomal Dominant 1
Depressed nasal ridge, Retrognathia, Bulbous nose, Prominent nose, Micrognathia, Short columella,... OMIM:156200
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Joint contracture of the hand, Decreas... OMIM:201750
Immunodeficiency 9
Difficulty walking, Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count OMIM:612782
Ebola Hemorrhagic Fever
Lymphopenia, Lethargy, Leukopenia, Thrombocytopenia ORPHA:319218
Holoprosencephaly 9
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:610829
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... ORPHA:2879
Familial Colorectal Cancer Type X
Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroid gland, Weight loss, Flexion... ORPHA:440437
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent tib... OMIM:200980
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:424
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Failure to thrive, Hypoglycemia, Hyperglycemia, Inguinal hernia, Hirsutism... OMIM:220111
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Adrenocortical cytomegaly, Cryptorchidism, Adrenocortical carcinoma, Hepa... OMIM:130650
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
Huntington Disease
Weight loss, Decreased body mass index ORPHA:399
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, Lymphopenia, Overlapping fingers, Micrognathia, Dysmetria, Knee flexion contractur... OMIM:619708
Ataxia-Telangiectasia
Inability to walk, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B c... OMIM:208900
Proteus Syndrome
Thymus hyperplasia, Diabetes insipidus, Abnormal dental enamel morphology, Neoplasm of the thymus... ORPHA:744
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Bulbous nose, Anteverted nares, Dysmetria, Mesiodens, Ataxia, Nonprogressive c... ORPHA:314647
Holocarboxylase Synthetase Deficiency
Alopecia, Weight loss, Growth delay ORPHA:79242
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Micrognathia ORPHA:2268
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Graves disease, Obesity, Weight loss, Hyperthyroidism, Thyrotoxicosis... ORPHA:79102
Gm1 Gangliosidosis
Failure to thrive, Camptodactyly of finger, Hepatosplenomegaly, Inguinal hernia, Splenomegaly, Hi... ORPHA:354
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Weight loss, Splenomegaly ORPHA:3226
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Splenomegaly, Peri... OMIM:618935
Focal Myositis
Weight loss ORPHA:48918
Klatskin Tumor
Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Parathyroid Carcinoma
Chondrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Pancrea... ORPHA:143
Cystinosis, Nephropathic
Male hypogonadism, Growth delay, Failure to thrive, Glycosuria, Failure to thrive in infancy, Exo... OMIM:219800
Campomelic Dysplasia
Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ... ORPHA:140
Perry Syndrome
Weight loss ORPHA:178509
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating hepatic transaminase concentration, Weight loss, Abnormal testis morphology,... ORPHA:54251
8P23.1 Microdeletion Syndrome
Intrauterine growth retardation, Obesity, Congenital diaphragmatic hernia, Cryptorchidism, Weight... ORPHA:251071
Choreoacanthocytosis
Impaired vibratory sensation, Mental deterioration, Depression, Temporomandibular joint crepitus,... ORPHA:2388
Acute Liver Failure
Elevated circulating hepatic transaminase concentration, Hepatitis, Hypoglycemia, Hepatocellular ... ORPHA:90062
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Neuroendocrine neoplasm, Cholecystitis, Intermittent jaundice, Biliary tr... ORPHA:100086
Huntington Disease-Like 1
Weight loss ORPHA:157941
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Sponastrime Dysplasia
Depressed nasal bridge, Mandibular prognathia, Anteverted nares, Aplasia of the nasal bone, Hypop... ORPHA:93357
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Growth arrest lines, Abnormal pelvic girdle bone morphology, Lymphopenia, Autoimmune hemolytic an... OMIM:102700
Felty Syndrome
Cellulitis, Hepatomegaly, Weight loss, Splenomegaly ORPHA:47612
Alveolar Echinococcosis
Biliary cirrhosis, Decreased liver function, Abnormal mesentery morphology, Portal hypertension, ... ORPHA:284
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... OMIM:602450
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leukopenia, Thrombocytopenia, At... OMIM:127550
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos... OMIM:619377
Acquired Central Diabetes Insipidus
Weight loss, Diabetes insipidus ORPHA:95626
Igg4-Related Thyroid Disease
Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing chol... ORPHA:64744
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Costello Syndrome
Failure to thrive, Hypoglycemia, Curly hair, Achilles tendon contracture, Short stature, Sparse hair OMIM:218040
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:99819
Aggressive Systemic Mastocytosis
Decreased liver function, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Weight loss ORPHA:98850
Takayasu Arteritis
Weight loss ORPHA:3287
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v... ORPHA:3144
Marfan Syndrome
Slender build, Cachexia, Inguinal hernia ORPHA:558
Metachromatic Leukodystrophy, Late Infantile Form
Progressive gait ataxia, Gait ataxia, Emotional lability, Abnormal social behavior ORPHA:309256
Polymyositis
Hepatomegaly, Chondrocalcinosis, Weight loss ORPHA:732
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid h... OMIM:612541
Nephroblastoma
Neoplasm of the liver, Weight loss ORPHA:654
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Sparse eyebrow, Slender build, Large for gestational age, Broad eyebrow, Neonatal hypoglycemia ORPHA:457359
Stickler Syndrome
Abnormal dental enamel morphology, Slender build, Cachexia, Short stature ORPHA:828
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Multiple joint contractures, Hair-pulling, Irritability ORPHA:447997
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Weight... ORPHA:139402
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... OMIM:276820
Lymphoid Interstitial Pneumonia
Hepatomegaly, Weight loss, Failure to thrive, Abnormality of connective tissue ORPHA:79128
Holoprosencephaly 1
Short stature, Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia OMIM:236100
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Hypogonadism, Hepatosplenomegaly, Weight loss, Abnormal testis morpholo... ORPHA:85450
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Hypothyroidism, Weight loss, Short stature OMIM:613673
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Weight loss, Paraganglioma, Paraganglioma of head and neck, Elevated ci... ORPHA:29072
Chronic Beryllium Disease
Weight loss ORPHA:133
Dihydropyrimidine Dehydrogenase Deficiency
Depressed nasal bridge, Delayed eruption of teeth, Retrognathia, Anteverted nares, Irritability, ... ORPHA:1675
Osteosarcoma
Weight loss ORPHA:668
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss, Alopecia of scalp ORPHA:704
Acute Monoblastic/Monocytic Leukemia
Weight loss, Central hypothyroidism ORPHA:514
Mucolipidosis Type Ii
Dry hair, White hair, Umbilical hernia, Fine hair, Postnatal growth retardation, Hepatosplenomega... ORPHA:576
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviation of finger, ... OMIM:218330
Charge Syndrome
Bifid femur, Short thumb, Cleft upper lip, Retinal coloboma, Lymphopenia, Micrognathia, Down-slop... OMIM:214800
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Weight loss, Pancreatitis, Jaundice, Ovarian neoplasm, Neoplasm of the pancreas ORPHA:370348
Wild Type Attr Amyloidosis
Hepatomegaly, Weight loss ORPHA:330001
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss, Paraganglioma of head and n... ORPHA:276621
Ileal Neuroendocrine Tumor
Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati... ORPHA:100078
Cap Polyposis
Weight loss ORPHA:160148
Liposarcoma
Weight loss ORPHA:69078
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Short stature, Abnormal pituitary gland morphology, Decreased b... ORPHA:314621
Congenital Tufting Enteropathy
Cholestatic liver disease, Weight loss, Failure to thrive ORPHA:92050
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Neuroblastoma
Elevated circulating catecholamine level, Weight loss ORPHA:635
Polyarteritis Nodosa
Weight loss ORPHA:767
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Acrodermatitis Enteropathica
Alopecia, Failure to thrive, Abnormal eyebrow morphology, Weight loss, Short stature ORPHA:37
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Giant Cell Arteritis
Alopecia, Weight loss, Hepatic failure, Diabetes insipidus ORPHA:397
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... ORPHA:35078
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto... ORPHA:2753
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Depressed nasal bridge, Ataxia OMIM:616393
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Pain insensitivity, Wide nasal bridge, Broad nasal tip, Umbilical hernia, Emotional lability, Hai... OMIM:620330
Monosomy 22Q13.3
Wide nasal bridge, Dental malocclusion, Impaired pain sensation, Umbilical hernia, Bulbous nose, ... ORPHA:48652
Lynch Syndrome
Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroid gland, Salivary gland neopl... ORPHA:144
Adult-Onset Still Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Weight loss, He... ORPHA:829
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Weight loss, Growth delay ORPHA:90362
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Neutropenia OMIM:617827
Refractory Celiac Disease
Weight loss, Abnormal spleen physiology, Elevated circulating hepatic transaminase concentration ORPHA:398063
Kinsship Syndrome
Thick lower lip vermilion, Micrognathia, Fibular hypoplasia, Polydactyly, Thin upper lip vermilio... OMIM:619297
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Short stature, Intrauterine growth retardation, Weight loss, Cryptorchidism OMIM:301310
Marburg Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Orchitis, Pancreatitis, Ja... ORPHA:99826
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Mild postnatal growth retardation, Weight loss, Enthesitis, Flexion contracture ORPHA:85408
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Dystrophic toenail, Alopecia totalis, Delayed menarche, Absence of subcutaneo... ORPHA:740
Systemic Capillary Leak Syndrome
Weight loss, Pancreatitis ORPHA:188
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Q Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali... ORPHA:781
Osteopathia Striata With Cranial Sclerosis
Cleft upper lip, Thick lower lip vermilion, Fibular aplasia, Micrognathia, Fibular hypoplasia, Ar... OMIM:300373
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Yao Syndrome
Weight loss OMIM:617321
Perry Syndrome
Weight loss OMIM:168605
Trichotillomania
Hair-pulling OMIM:613229
Al Amyloidosis
Hepatomegaly, Abnormality of the liver, Weight loss, Abnormal salivary gland morphology ORPHA:85443
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Loeffler Endocarditis
Weight loss ORPHA:75566
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Depression, Chorea, Low frustration t... ORPHA:646
Igg4-Related Aortitis
Weight loss ORPHA:449400
Oromandibular Dystonia
Weight loss ORPHA:93958
Tropical Endomyocardial Fibrosis
Hepatomegaly, Cachexia, Splenomegaly ORPHA:75565
Carney-Stratakis Syndrome
Weight loss, Paraganglioma ORPHA:97286
Glucose-Galactose Malabsorption
Weight loss, Failure to thrive ORPHA:35710
Polycythemia Vera
Portal hypertension, Splenomegaly, Portal vein thrombosis, Weight loss, Hepatomegaly ORPHA:729
Neuroblastoma, Susceptibility To, 1
Weight loss, Failure to thrive OMIM:256700
Cornelia De Lange Syndrome 6
Macrodontia of permanent maxillary central incisor, Anteverted nares, Inguinal hernia, Hair-pulli... OMIM:620568
Thymoma
Weight loss, Neoplasm of the thyroid gland ORPHA:99867
Fatal Familial Insomnia
Weight loss OMIM:600072
Ménétrier Disease
Weight loss ORPHA:2494
Koolen-De Vries Syndrome Due To A Point Mutation
Wide nasal bridge, Underdeveloped nasal alae, Thick nasal alae, Bulbous nose, Slender build, Prom... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Thick nasal alae, Bulbous nose, Slender build, Prom... ORPHA:363958
Rheumatoid Arthritis
Weight loss OMIM:180300
Aicardi-Goutieres Syndrome 7
Hepatitis, Intrauterine growth retardation, Hepatic steatosis, Splenomegaly, Hypothyroidism, Weig... OMIM:615846
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Amoebiasis Due To Entamoeba Histolytica
Weight loss, Elevated circulating hepatic transaminase concentration, Liver abscess ORPHA:67
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Pneumocystosis
Weight loss ORPHA:723
2Q23.1 Microdeletion Syndrome
Ataxia, Sandal gap, Tented upper lip vermilion, Everted lower lip vermilion, Hip dysplasia, Clino... ORPHA:228402
Fanconi Anemia
Umbilical hernia, Hypogonadism, Intrauterine growth retardation, Abnormality of the liver, Crypto... ORPHA:84
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Imerslund-Gräsbeck Syndrome
Weight loss, Failure to thrive ORPHA:35858
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Weight loss, Splenomegaly ORPHA:98849
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Weight loss, Diabetes insipidus, Retroperitoneal fibrosis ORPHA:35687
Mend Syndrome
Failure to thrive, Micrognathia, Prominent nasal bridge, Abnormal nasal bridge morphology, Abnorm... ORPHA:401973
Pancreatoblastoma
Pancreatic calcification, Jaundice, Weight loss ORPHA:677
Eosinophilic Granulomatosis With Polyangiitis
Weight loss ORPHA:183
Igg4-Related Kidney Disease
Decreased liver function, Abnormal mesentery morphology, Sialadenitis, Cholecystitis, Sclerosing ... ORPHA:449395
Simple Cryoglobulinemia
Weight loss, Viral hepatitis ORPHA:91139
Malignant Atrophic Papulosis
Peritonitis, Weight loss ORPHA:679
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Nocardiosis
Cellulitis, Abnormality of the adrenal glands, Weight loss, Peritonitis, Thyroiditis, Liver abscess ORPHA:31204
African Trypanosomiasis
Alopecia, Hepatosplenomegaly, Abnormality of circulating cortisol level, Splenomegaly, Weight los... ORPHA:3385
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology, Long eyelashes, Weight loss, Hypopigmentation of hair ORPHA:79430
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Stevens-Johnson Syndrome
Acute hepatic failure, Weight loss, Pancreatitis, Elevated circulating hepatic transaminase conce... ORPHA:36426
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Failure to thrive, Elbow flexion contracture, Knee flexion contracture... ORPHA:2020
Igg4-Related Retroperitoneal Fibrosis
Hashimoto thyroiditis, Weight loss, Hydrocele testis ORPHA:49041
Toxic Epidermal Necrolysis
Acute hepatic failure, Weight loss, Pancreatitis, Elevated circulating hepatic transaminase conce... ORPHA:537
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Weight loss, Growth delay ORPHA:309031
Brucellosis
Failure to thrive, Hypersplenism, Abnormality of the liver, Splenomegaly, Orchitis, Weight loss, ... ORPHA:1304
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Weight loss, Failure to thrive ORPHA:1018
Sarcoidosis
Alopecia, Enlarged lacrimal glands, Hepatic failure, Decreased liver function, Parotitis, Enlarge... ORPHA:797
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormality of the submandibular glands, Enlargement of parotid gland, ... ORPHA:79078
Castleman Disease
Jaundice, Weight loss ORPHA:160
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Familial Thrombocytosis
Weight loss, Splenomegaly ORPHA:71493
Sotos Syndrome
Ankle flexion contracture, Umbilical hernia, Sparse anterior scalp hair, Inguinal hernia, Hip con... ORPHA:821
Malt Lymphoma
Weight loss, Abnormality of the thyroid gland ORPHA:52417
Williams Syndrome
Wide nasal bridge, Carious teeth, Dental malocclusion, Hypoplasia of the zygomatic bone, Depressi... ORPHA:904
Granulomatosis With Polyangiitis
Weight loss, Pancreatitis, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus ORPHA:900
Juvenile Dermatomyositis
Alopecia, Weight loss ORPHA:93672
Riddle Syndrome
Short stature, Weight loss ORPHA:420741
Reactive Arthritis
Dystrophic fingernails, Weight loss, Enthesitis ORPHA:29207
Rat-Bite Fever
Weight loss, Pancreatitis, Parotitis ORPHA:31205
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Tuberous Sclerosis Complex
Attention deficit hyperactivity disorder, Depression, Abnormal social behavior, Shagreen patch ORPHA:805
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Weight loss, Testicular microlithiasis ORPHA:60025
Kikuchi-Fujimoto Disease
Alopecia, Elevated circulating hepatic transaminase concentration, Enlargement of parotid gland, ... ORPHA:50918
Pyomyositis
Testicular teratoma, Weight loss ORPHA:764
Multiple Myeloma
Weight loss, Splenomegaly ORPHA:29073
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Splenomegaly, Weight loss, Hepatomegaly, Enlarged lacrimal gl... OMIM:181000
Dermatomyositis
Cellulitis, Alopecia, Chondrocalcinosis, Elevated circulating hepatic transaminase concentration,... ORPHA:221
Postinfectious Vasculitis
Weight loss, Viral hepatitis, Orchitis ORPHA:48435
Behçet Disease
Weight loss, Pancreatitis, Splenomegaly, Orchitis ORPHA:117
Chronic Graft Versus Host Disease
Alopecia, Elevated circulating hepatic transaminase concentration, Fasciitis, Nail dystrophy, Wei... ORPHA:99921
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Immunodeficiency 82 With Systemic Inflammation
Splenomegaly, Weight loss, Hepatitis OMIM:619381
Systemic Lupus Erythematosus
Alopecia, Weight loss ORPHA:536
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Weight loss ORPHA:91500
Goodpasture Syndrome
Weight loss OMIM:233450

Histopathology

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

There is no histopathology data for Mbd5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mbd5.

No publications found that use IMPC mice or data for Mbd5.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Mbd5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mbd5tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mbd5tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Mbd5tm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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