Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Mbd5tm1b(EUCOMM)Wtsi HET Early adult 6.00×10-07
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
preweaning lethality, complete penetrance Mbd5tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
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
decreased lymphocyte cell number Mbd5tm1b(EUCOMM)Wtsi HET Early adult 2.80×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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
Mandibular prognathia, Short attention span, Ataxia, Micrognathia, Prominent nose, Bulbous nose, ... OMIM:156200
2Q23.1 Microdeletion Syndrome
Tented upper lip vermilion, Ataxia, Sandal gap, Hip dysplasia, Everted lower lip vermilion, Short... 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
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Abnormality of body we... ORPHA:314811
Acid-Labile Subunit Deficiency
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Mild postnatal growth retard... OMIM:615961
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Growth delay, Delayed ... ORPHA:314802
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, P... OMIM:262400
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati... ORPHA:171706
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins... OMIM:262700
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Postnata... OMIM:232700
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropi... ORPHA:453533
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature, Hypoglycemia OMIM:223500
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Pyknoachondrogenesis
Stillbirth OMIM:265880
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Short stature, Cachexia, Splenomega... ORPHA:1133
Polyendocrine-Polyneuropathy Syndrome
Short stature, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postna... OMIM:616113
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom... ORPHA:369
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Short stature, Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant dia... OMIM:262190
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulat... OMIM:617872
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype... OMIM:620211
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis OMIM:261650
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia ORPHA:366
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,... ORPHA:300373
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... OMIM:262600
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Small for gestational age, Short stature, Hypoglycemia, Postnatal growth retardation, Decreased b... ORPHA:231140
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia, Hepatomegaly ORPHA:2576
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... ORPHA:79084
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... ORPHA:95619
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Abnormal hair morpholo... ORPHA:1979
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... OMIM:613038
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Short stature, Hypogonadot... OMIM:612079
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Hyperinsuli... ORPHA:276575
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Isolated Growth Hormone Deficiency, Type Iv
Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ... OMIM:618157
Moynahan Syndrome
Alopecia, Short stature, Cachexia, Hypogonadism, Sparse hair ORPHA:2574
Mehmo Syndrome
Small for gestational age, Hypoglycemia, Decreased response to growth hormone stimulation test, O... OMIM:300148
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc... OMIM:613986
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Short stature, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619048
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... ORPHA:276556
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Temple Syndrome
Short stature, Small for gestational age, Decreased response to growth hormone stimulation test, ... ORPHA:254516
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Intrauterine growth retardation, Hypoglycemia ORPHA:231147
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis OMIM:620357
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice ORPHA:446
2P21 Microdeletion Syndrome
Hypoglycemia, Growth delay, Long eyelashes, Hypogonadism, Failure to thrive ORPHA:163693
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Median cleft lip, Polydactyly OMIM:300484
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:618160
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Severe short stature, Cachexia, Growt... ORPHA:3242
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Lipoatrophy, Short sta... ORPHA:157954
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Severe short stature, Pituitary dwarfism, Anterior ... OMIM:173100
Flynn-Aird Syndrome
Alopecia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diab... ORPHA:2047
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Short stature, Low anterior hairline, Delayed thelarche... OMIM:616033
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cachexia, Distal arthrogryposis, Decre... ORPHA:42
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine grow... OMIM:613370
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Postnatal growth retardation, Splenome... OMIM:613027
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Increased circulating ACTH level, Abnormal circulating reni... OMIM:202200
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Short stature, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, Cry... ORPHA:95496
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Fine hair, ... ORPHA:231137
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Decreased liver function ORPHA:67048
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Intrauterine growth re... OMIM:618958
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Hypoglycemia OMIM:616111
Donohue Syndrome
Postnatal growth retardation, Adipose tissue loss, Precocious puberty, Hyperinsulinemia, Cholesta... OMIM:246200
Galactokinase Deficiency
Hepatomegaly, Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsul... ORPHA:79237
Obesity And Hypopigmentation
Red hair, Hepatic steatosis, Hyperinsulinemia, Obesity OMIM:620195
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Insulin res... ORPHA:73272
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Growth delay, Increased hepatic glycogen... OMIM:261750
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Failure to thrive, Hepatic steatosis, Ketotic hypoglycemia ORPHA:26792
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, ... ORPHA:398079
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreased body weight ORPHA:1672
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Intrauterine growth retardation, Hyperglycemia, Transient neonatal diab... OMIM:601410
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Sparse axillary hair, Reduced circulating pro... ORPHA:91355
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Increased... OMIM:614736
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... ORPHA:79644
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... OMIM:231100
Blue Diaper Syndrome
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In... ORPHA:94086
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Prader-Willi Syndrome
Hypopigmentation of hair, Diabetes mellitus, Short stature, Decreased response to growth hormone ... ORPHA:739
Non-Acquired Panhypopituitarism
Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Hypoglycemia, Decreased response ... ORPHA:90695
Laryngeal Neuroendocrine Tumor
Weight loss, Adrenocorticotropic hormone excess, Increased serum serotonin, Elevated circulating ... ORPHA:100083
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... OMIM:617950
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Proportionate short stature, Neoplasm of... ORPHA:54595
Silver-Russell Syndrome
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Precocious p... ORPHA:813
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatic fibrosis OMIM:232400
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... OMIM:201400
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Premature pubarche, Short stature, Precocious puberty, Cryptorchidism, ... ORPHA:398069
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Decreased serum insulin-like growth factor 1, Ectopi... OMIM:620303
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Attention deficit hyperactivity disorder OMIM:615401
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Camptodactyly of finger, Hypoglycemia, Hypogonadotropic hypogonadism, Long eyelash... ORPHA:48431
Orofaciodigital Syndrome Ix
Toe syndactyly, Median cleft lip, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia OMIM:258865
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Diabetes mellitus, Short stature, Small for gestational age, Decreased ... ORPHA:98754
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Alopecia, Alo... ORPHA:293978
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity, Short stature ORPHA:369873
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95513
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Diabetes mellitus, Short stature, Small for gestational age, Decreased ... ORPHA:98793
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Hypoglycemia, Decreased liver function, Elevated hepatic transaminase OMIM:615160
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Dorsocervical fat pad, Hypoglycemia, Proportionate short stature, Small for ge... ORPHA:391408
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Decreased liver function OMIM:246900
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:231720
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Diabetes mellitus, Short stature, Small for gestational age, Decreased ... ORPHA:177904
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia ORPHA:289504
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Diabetes mellitus, Short stature, Small for gestational age, Decreased ... ORPHA:177901
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Short stature, Ketotic hypoglycemia, Glycosuria, Postprandial hype... ORPHA:2089
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas... ORPHA:263455
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Polycys... ORPHA:3085
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal gap, Short humerus,... OMIM:607143
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... OMIM:608600
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Pituitary Hormone Deficiency, Combined, 3
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... OMIM:221750
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612702
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Growth delay OMIM:306000
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:245400
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619386
Septo-Optic Dysplasia Spectrum
Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, Abnorma... ORPHA:3157
Erythrokeratodermia Variabilis
Alopecia, Diabetes mellitus, Short stature, Abnormal hair morphology, Weight loss, Abnormal testi... ORPHA:317
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Hypergonadotropic hypogo... ORPHA:2232
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Mcdonough Syndrome
Cryptorchidism, Synophrys, Short stature, Cachexia ORPHA:2471
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic failure, Failure to thrive ORPHA:2394
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Laron Syndrome
Severe short stature, Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed... ORPHA:633
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Wolman Disease
Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Growth delay, Adrenal insufficiency,... ORPHA:75233
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia ORPHA:157973
Alexander Disease Type I
Failure to thrive, Abnormal thalamic MRI signal intensity, Cachexia ORPHA:363717
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia ORPHA:5
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Adipose tissue los... ORPHA:528
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Insulin... ORPHA:363400
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ... OMIM:606407
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Neonatal death, Int... OMIM:618835
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino... ORPHA:2088
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Neonatal death, Int... OMIM:618839
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Short stature, Hypoglycemia, Larg... OMIM:616026
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Ab... ORPHA:791
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... OMIM:261680
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Intrauterine growth retardation, Failure to thrive, Hypoglycemia OMIM:614702
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Cog2-Cdg
Small pituitary gland, Decreased liver function ORPHA:435934
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase, Small pituitary gland OMIM:617395
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Silver-Russell Syndrome Due To A Point Mutation
Inguinal hernia, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Cryptorch... ORPHA:397590
Silver-Russell Syndrome 1
Small for gestational age, Decreased response to growth hormone stimulation test, Testicular semi... OMIM:180860
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... ORPHA:2457
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Small pituitary gland OMIM:614880
Fg Syndrome Type 1
Inguinal hernia, Progressive flexion contractures, Short stature, Cryptorchidism, Frontal upsweep... ORPHA:93932
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:151660
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... OMIM:617093
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Combined Pituitary Hormone Deficiencies, Genetic Forms
Pituitary dwarfism, Ectopic posterior pituitary, Hypoglycemia, Decreased response to growth hormo... ORPHA:95494
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Thick eyebrow, Short stature, Decreased response to growth hormone stimulation test, Fasting hypo... ORPHA:436174
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... ORPHA:79239
Deeah Syndrome
Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test, Anterior pitu... OMIM:619004
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia ORPHA:364
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Ankle flexion contracture, Hypoglycemia OMIM:618120
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Proportionate short stature, Fasting hyperi... ORPHA:71212
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Cachexia, Splenomegaly, Dystrophic toenail, Patchy alopecia, Dystrophic f... ORPHA:2930
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Riboflavin Transporter Deficiency
Hypogonadism, Diabetes insipidus, Cachexia ORPHA:97229
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... OMIM:619476
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Small for gestational age, Cryptorchidism, Fine hair, Growth delay, Recurrent hypo... OMIM:616817
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Increased... ORPHA:264580
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... ORPHA:67045
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hypoglycemia ORPHA:664
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cac... ORPHA:298
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature OMIM:619489
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Failure to thrive in infancy, Cachexia, Intrauterine growth retardation OMIM:616801
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:212140
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Christianson Syndrome
Arthrogryposis multiplex congenita, Cachexia, Thick eyebrow ORPHA:85278
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... ORPHA:1227
Stuve-Wiedemann Syndrome 1
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... OMIM:601559
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Abnormal liver ... ORPHA:90003
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Severe... OMIM:609069
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Slc35A2-Cdg
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Inability to walk, Abnormal long bone m... ORPHA:356961
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:617049
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Focal T2 hyperintense thalamic lesion, Failure to thrive, Neonatal hypoglycemia OMIM:619046
Rabson-Mendenhall Syndrome
Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting hypoglycemia,... ORPHA:769
Pulmonary Blastoma
Weight loss ORPHA:64741
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Type I diabetes mellitus, Intrauterine growth retar... OMIM:606176
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Decreased circulating ACT... ORPHA:199299
Septooptic Dysplasia
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:182230
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic... OMIM:251880
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren... ORPHA:199296
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Growth delay, Hyperglycemia, ... OMIM:615453
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Thick eyebrow, Hypertrichosis OMIM:616260
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Depressed nasal bridge, Micrognathia, Obesity, Attention deficit hyperactiv... ORPHA:444002
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia ORPHA:79096
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Congenital adrenal hyperplasia, Cryp... ORPHA:90791
Silver-Russell Syndrome 2
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia OMIM:618905
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia OMIM:614739
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Whipple Disease
Hepatomegaly, Cachexia, Splenomegaly, Insulin resistance, Hypothyroidism ORPHA:3452
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair, Intrauterine growth retardation, Hypoglycemia, Small for gestational age OMIM:618253
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay ORPHA:79238
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal pancreas morphology, Hype... ORPHA:2849
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... OMIM:608612
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Flexion contracture, Neonatal death, Arthrogryposis multiplex c... OMIM:618186
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... ORPHA:90790
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Short stature, Cachexia, Elbow flexion contracture, Knee flexion contracture, Se... ORPHA:371364
Familial Renal Glucosuria
Insulin resistance, Moderate postnatal growth retardation, Abnormal circulating insulin concentra... ORPHA:69076
Tetrasomy 12P
Sparse hair, Cachexia, Short stature, Sparse eyebrow ORPHA:884
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... ORPHA:83469
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h... ORPHA:79319
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Ketotic hypoglycemia, Hepatocellular ... ORPHA:79240
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... ORPHA:444463
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... OMIM:251230
Cog8-Cdg
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia ORPHA:95428
Propionic Acidemia
Hepatomegaly, Short stature, Hypoglycemia, Failure to thrive, Pancreatitis OMIM:606054
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Short stature, Hypoglycemia, Cachexia, Thyroid carcinoma, Lipoma,... ORPHA:109
Smith-Kingsmore Syndrome
Curly hair, Rhizomelia, Hypoglycemia, Large for gestational age, Cryptorchidism, Umbilical hernia OMIM:616638
Webb-Dattani Syndrome
Short stature, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... OMIM:615926
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Generalized hirsutism, Cachexia ORPHA:1933
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Growth delay, Sparse or absent eyelash... ORPHA:217346
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Short ... OMIM:614921
Pituitary Apoplexy
Hypoglycemia, Decreased response to growth hormone stimulation test, Elevated circulating growth ... ORPHA:95613
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Femoral b... OMIM:608940
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hypoglycemia ORPHA:156
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hypoglycemic seizures, Growth delay, Hepatic steatos... OMIM:231530
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog... OMIM:256810
Malonyl-Coa Decarboxylase Deficiency
Short stature, Hypoglycemia OMIM:248360
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Hypoglycemia, Intrauterine growth retardation, Joint contracture, Failure to thriv... OMIM:618005
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Jaundice, Hypoglycemia, Acute hepatic failure OMIM:616483
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis OMIM:201450
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Immunodeficiency, Common Variable, 10
Hypoglycemia, Alopecia totalis, Decreased response to growth hormone stimulation test, Central ad... OMIM:615577
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:210200
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Alopecia, Spar... OMIM:248370
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnor... ORPHA:1988
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Tuberculosis
Weight loss ORPHA:3389
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypogl... OMIM:600649
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated... ORPHA:97282
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... ORPHA:97283
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia, Short stature ORPHA:66518
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Cleft upper lip, Metaphyseal wi... OMIM:613091
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Spondyloepimetaphyseal Dysplasia, Missouri Type
Waddling gait, Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowi... OMIM:602111
Chromosome 14Q11-Q22 Deletion Syndrome
Inguinal hernia, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short st... OMIM:613457
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Failure to thrive, Hypoglycemia, Pancreatitis OMIM:251000
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Leprechaunism
Reduced subcutaneous adipose tissue, Facial hypertrichosis, Hepatomegaly, Enlarged ovaries, Postn... ORPHA:508
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... OMIM:620076
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Hypoglycemia, Large for gestational age, Cry... OMIM:619075
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Majeed Syndrome
Hepatomegaly, Cachexia, Splenomegaly, Flexion contracture, Weight loss, Failure to thrive ORPHA:77297
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi... ORPHA:79086
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... OMIM:616300
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Short stature, Camptodactyly of finger, Abnormal hair pattern, Cachexia, Synophr... ORPHA:85293
Short Syndrome
Inguinal hernia, Severe short stature, Lipodystrophy, Abnormal dental enamel morphology, Diabetes... ORPHA:3163
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Short tibia, Short femur, Talipes equinovarus OMIM:620306
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Inguinal hernia, Hypoglycemia, Elbow contracture, Umbilical hernia, Intrauterine growth retardation OMIM:620275
Acromelic Frontonasal Dysostosis
Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cleft upper lip, Pre... OMIM:603671
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Alopecia, Hyperthyroidism, Failure to thrive in infancy, Cachexia,... ORPHA:37042
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Hypoglycemia, Neonatal death, Intrauterine growth retardation, Failure... OMIM:619055
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas... OMIM:227810
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia OMIM:301080
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Short stature, Hypoglycemia, Elevated circulating aspartate aminotransferase concen... OMIM:608779
Hsd10 Disease
Choreoathetosis, Short attention span, Abnormal social behavior, Ataxia ORPHA:391417
Orofaciodigital Syndrome Type 2
Finger syndactyly, Median cleft lip, Broad hallux, Micrognathia, Short tibia, Central retinal ves... ORPHA:2751
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Anterior pituitary hypoplasia, Synophrys, Pituitary hypothyroidism, Long eyelashes, Hypertrichosis OMIM:619983
Culler-Jones Syndrome
Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Hypogo... OMIM:615849
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Isolated Exencephaly
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes ORPHA:563612
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... ORPHA:91351
Glutaric Acidemia I
Hepatomegaly, Failure to thrive, Hypoglycemia OMIM:231670
Isolated Complex I Deficiency
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Intrauterine growth retardation, Failure to thrive ORPHA:2609
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Microvesicular hepati... OMIM:619418
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Hypoglycemi... ORPHA:85138
Mirage Syndrome
Short stature, Hypoglycemia, Adrenal hypoplasia, Hypergonadotropic hypogonadism, Cryptorchidism, ... OMIM:617053
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia ORPHA:2774
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Hypoglycemia, Sparse axillary hair, Adrenal hypoplasia, Pri... ORPHA:95409
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia OMIM:212138
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hypoglycemia OMIM:616355
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia ORPHA:93941
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Severe short stature, Cachexia, Absence of subcutaneous fat, Corne... OMIM:610965
Idiopathic Achalasia
Weight loss ORPHA:930
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom... OMIM:232200
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Chronic active hepatitis, Short stature, D... OMIM:203800
Primary Myelofibrosis
Hepatomegaly, Portal hypertension, Cachexia, Splenomegaly, Hepatosplenomegaly ORPHA:824
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Dispr... OMIM:263520
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol... ORPHA:189427
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... OMIM:609015
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Neonatal death, Hepatic periportal necrosis, He... OMIM:231680
D-Glyceric Aciduria
Growth delay, Failure to thrive, Hypoglycemia OMIM:220120
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia ORPHA:702
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Weight loss ORPHA:2023
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... ORPHA:103918
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... OMIM:618329
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Jaundice, Cholesta... OMIM:617156
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic failure, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Failur... OMIM:602579
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia OMIM:611126
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... OMIM:613239
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Peripheral retinal avascularization, Tented upper lip vermilion, Micrognathia, Tibial bowing, Hyp... ORPHA:96334
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... ORPHA:786
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Intrauterine growth retardation, Hypoglycemia OMIM:617710
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia OMIM:246450
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosi... ORPHA:348
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... OMIM:600785
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevat... OMIM:620300
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Reni Syndrome
Hypoglycemia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Hypothyroidism OMIM:617575
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... OMIM:608594
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Acromelic Frontonasal Dysplasia
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia, Midline central nervous system li... ORPHA:1827
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Fle... OMIM:613327
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... OMIM:608747
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia, Weight loss ORPHA:134
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... ORPHA:97280
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Neonatal hypoglycemia OMIM:617600
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Postnatal growt... ORPHA:96182
Shashi-Pena Syndrome
Hypoglycemia, Highly arched eyebrow, Synophrys, Long eyelashes, Intrauterine growth retardation, ... OMIM:617190
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat... ORPHA:1333
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia, Chorioretinal coloboma ORPHA:1116
Basilicata-Akhtar Syndrome
Precocious puberty, Neonatal hypoglycemia, Camptodactyly OMIM:301032
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Thin vermilion border, Irritability, 2-3 toe syndactyly ORPHA:391307
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Flexion contracture, Small pituitary gland, Disproportionate short-limb short stature, Hypertrich... OMIM:619479
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Cleft upper lip, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly... OMIM:206920
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... ORPHA:65682
Hereditary Central Diabetes Insipidus
Growth delay, Diabetes insipidus, Weight loss ORPHA:30925
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Weight loss, Abnormal liver parenchyma morphology, Pheochromocytoma,... ORPHA:1332
X-Linked Dominant Chondrodysplasia Punctata
Short stature, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal... ORPHA:35173
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:86893
Pituitary Adenoma 1, Multiple Types