Gene Summary

Name:
nuclear receptor coactivator 3
Synonyms:
TRAM-1,  pCIP,  AIB1,  bHLHe42,  RAC3,  2010305B15Rik,  TRAM1,  Src3,  KAT13B

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
persistence of hyaloid vascular system Ncoa3tm1b(EUCOMM)Wtsi HET Early adult 1.30×10-06
abnormal tooth morphology Ncoa3tm1b(EUCOMM)Wtsi HOM Early adult 2.73×10-05
impaired glucose tolerance Ncoa3tm1b(EUCOMM)Wtsi HET Early adult 9.95×10-09
abnormal tooth morphology Ncoa3tm1b(EUCOMM)Wtsi HET Early adult 6.94×10-14
preweaning lethality, incomplete penetrance Ncoa3tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
persistence of hyaloid vascular system Ncoa3tm1b(EUCOMM)Wtsi HOM Early adult 3.46×10-07
increased circulating bilirubin level Ncoa3tm1b(EUCOMM)Wtsi HET Early adult 7.10×10-08

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Aorta  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 50% (1 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 100% (1 of 1)
Ear N/A heterozygote Not available
Ear N/A homozygote Not available
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote Not available
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 100% (1 of 1)
Heart N/A heterozygote Not available
Heart N/A homozygote Not available
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote Not available
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote Not available
Lung N/A heterozygote Not available
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote Not available
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote Not available
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote Not available
Skin N/A heterozygote Not available
Skin N/A homozygote Not available
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 100% (1 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

Adult LacZ

LacZ Images Wholemount

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

Embryo LacZ

LacZ images wholemount

8 Images

MicroCT E18.5

Embryo reconstruction

3 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

5 Images

Human diseases caused by Ncoa3 mutations

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

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

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

The table below shows human diseases predicted to be associated to Ncoa3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity ORPHA:140941
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Decreased serum leptin, Lipodystrophy, Decreased adiponect... ORPHA:79085
Moynahan Syndrome
Alopecia, Short stature, Hypogonadism, Cachexia, Sparse hair ORPHA:2574
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Loss of facial adipose tissue, Hepatic steatosis, De... ORPHA:435651
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Multiple Symmetric Lipomatosis
Multiple lipomas, Insulin resistance, Gait disturbance, Hepatomegaly, Abnormal adipose tissue mor... ORPHA:2398
Dentin Dysplasia, Type I
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... OMIM:125400
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Abnormality of the urinary system, Diabetic... ORPHA:99886
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hepatic steatosis, Decreased serum leptin, Lipodystrophy, Decreased adipon... OMIM:615238
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel OMIM:613211
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Elevated hepatic transaminase, Polyphagia, Hyperlipidemia, Hyperglycemia, Obesity ORPHA:329249
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... OMIM:608600
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Type II diabetes mellit... OMIM:604367
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resist... ORPHA:181393
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... OMIM:204700
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... ORPHA:552
Otodental Dysplasia
Enamel hypoplasia, Long philtrum, Coloboma, Delayed eruption of teeth, Pulp calcification, Taurod... OMIM:166750
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Lipoatr... ORPHA:79084
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Mahvash Disease
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... OMIM:125500
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Splenomegaly, Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adi... ORPHA:280365
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta OMIM:104530
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyuria, Polyphagia, Hyperglycemia, Polydipsia OMIM:222100
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Chronic fatigue, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Sple... OMIM:610539
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Hypoketotic hypoglycemia, Hepatic failure, Hypothermia, Elevated hepatic transaminase, ... ORPHA:159
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive OMIM:601410
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Edinburgh Malformation Syndrome
U-Shaped upper lip vermilion, Neonatal hyperbilirubinemia OMIM:129850
Cortisone Reductase Deficiency 1
Alopecia, Precocious puberty, Infertility, Hirsutism, Oligomenorrhea, Obesity OMIM:604931
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Elevated circulating alanine aminotransferase concentration, Absent isohe... OMIM:615559
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Obesity, Hepatic steatosis, Hypercholesterolemia, ... OMIM:615703
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, D... OMIM:612526
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hypertriglyceridemia, Increased serum leptin, Insulin resistance, Polyphagia, H... OMIM:617885
Gcgr-Related Hyperglucagonemia
Increased glucagon level, Neoplasm of the pancreas, Stomatitis, Diabetes mellitus, Abnormal bilia... ORPHA:438274
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Cirrhosis, Hyperactivity, Reduced intraabdominal adipose tissue, R... ORPHA:363400
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... OMIM:204650
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism OMIM:307500
Acquired Partial Lipodystrophy
Lymphocytosis, Insulin resistance, Arthralgia, Hepatic steatosis, Myopathy, Lipoatrophy ORPHA:79087
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... OMIM:616221
Idiopathic Congenital Hypothyroidism
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:95717
Riboflavin Deficiency
Hypothermia, Hypoglycemia, Lethargy, Dicarboxylic aciduria OMIM:615026
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... OMIM:619924
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Small for gestational age, Long peni... OMIM:262190
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance, Premature pubarche OMIM:614662
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... OMIM:618386
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Hypertriglyceridemia, Increased adipose tissue... ORPHA:71529
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno... ORPHA:477781
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Lipoat... OMIM:613877
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors, Stillbirth OMIM:183300
Oligodontia
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:620010
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Hypoglycemia, Lethargy, 2-ethylhydracylic aciduria OMIM:610006
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Beta 2-microglobulinuria, Glycosuria, Small for gestational age, Chronic k... ORPHA:97362
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... ORPHA:324575
Amelogenesis Imperfecta, Type If
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta OMIM:616270
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Cleft Palate, Isolated
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Crandall Syndrome
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Hypogonadism, Abnormal... ORPHA:202
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... ORPHA:71526
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Unsteady gait OMIM:520000
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Increased radioactive iodine uptake, Po... ORPHA:95716
Familial Renal Glucosuria
Recurrent urinary tract infections, Glycosuria, Insulin resistance, Nephropathy, Hyperglycemia, E... ORPHA:69076
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Diabetes mellitus, Lipodystrophy, Hyperlipidemia, Abdomina... OMIM:615980
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... OMIM:301200
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Decreased body weight, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia... ORPHA:2298
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:104510
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Diarrhea, Parathyroid adenoma, Hyperinsulinemic hypoglycemi... ORPHA:276152
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Diarrhea, Pituitary null cell adenoma, Intestinal obstructi... ORPHA:913
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth OMIM:125420
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Diencephalic Syndrome
Cachexia, Decreased body weight, Abnormality of the hypothalamus-pituitary axis, Long penis ORPHA:1672
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Increased facial adipose tissue, Type II diabetes mellitu... OMIM:151660
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... ORPHA:90796
Essential Fructosuria
Hyperglycemia, Abnormal urine carbohydrate level ORPHA:2056
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Large for gestationa... ORPHA:226313
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Glycosuria, Small for gestational age, Type I diabetes mellitus, Hyperglycemia, Athetosis OMIM:618857
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Neoplasm of the skin... ORPHA:3261
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Arthralgia, Lipodystrophy, Failure to thrive, Lymphad... OMIM:618048
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... ORPHA:276580
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Flexion contracture, Stage 5 chronic kidney disease, Decreased adipose tissue a... OMIM:608612
Donohue Syndrome
Hepatic fibrosis, Hyperinsulinemia, Precocious puberty, Adipose tissue loss, Long penis, Postpran... OMIM:246200
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Type II diabetes mellitus, Elevated circulating creatine ki... OMIM:500002
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Flexion contracture, Increased circulating antibody level, Elevated hepatic transaminase,... OMIM:617591
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly, Increased cir... OMIM:618982
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Fanconi-Bickel Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... ORPHA:2088
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Myelodysplasia, Acute lymphoblastic leukemia, Hepatocellular carcinoma, E... ORPHA:158057
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitation, Reactive hy... ORPHA:276608
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Cirrhosis, Insulin resistance, Adipose tissue lo... ORPHA:528
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic fibrosis, Loss of gluteal subcutaneous adipose tissue, Insulin-resistan... ORPHA:280356
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... ORPHA:2791
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Splenomegaly, Elevated proportion ... OMIM:603909
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating alanine aminotransferase concentration, Hypothermia, Elevated circulating as... OMIM:245400
Mandibuloacral Dysplasia
Hyperinsulinemia, Increased circulating free fatty acid level, Contractures of the large joints, ... ORPHA:2457
Sepsis In Premature Infants
Cyanosis, Vomiting, Enterocolitis, Diarrhea, Decreased body weight, Small for gestational age, Ja... ORPHA:90051
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Arthralgia, Increased LDL cholesterol concentration, Decreased HD... OMIM:607616
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of secondary sex chara... ORPHA:66628
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Splenomegaly, Hemolytic anemia, Leukemia, Increased circulating antibody level, Lymphoc... OMIM:614470
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:178320
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol... ORPHA:2972
Renpenning Syndrome
Alopecia, Decreased testicular size, Thin eyebrow, Cachexia, Diabetes mellitus, Hypospadias, Seve... ORPHA:3242
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... OMIM:619868
Mulibrey Nanism
Cachexia, Intrauterine growth retardation, Short stature ORPHA:2576
Witkop Syndrome
Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair OMIM:189500
Bardet-Biedl Syndrome 9
Polyphagia, Truncal obesity, Hyperglycemia, Renal insufficiency, Obesity, Polydipsia OMIM:615986
Dentinogenesis Imperfecta
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Selective tooth agenesi... ORPHA:49042
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... ORPHA:276575
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:70578
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of secondary sex chara... ORPHA:179494
Rapidly Involuting Congenital Hemangioma
Tufted angioma, Perineal hemangioma, Midfrontal capillary hemangioma, Hemangioma, Hepatic hemangi... ORPHA:141184
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating alanine aminotransferase concentration, Insulin resistance, Elevated hepatic... OMIM:615381
Adenine Phosphoribosyltransferase Deficiency
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... ORPHA:976
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Aplasia/Hypoplasia of the eyebrow, Pili torti, Growth delay, Abnormality of hair texture, Sparse ... ORPHA:2891
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Recurrent mycobacterial infections, Coccidioidomycosis, Disseminated nontuberculou... ORPHA:319552
Alg12-Cdg
Abnormal circulating IgG level, Patent ductus arteriosus, Complete or near-complete absence of sp... ORPHA:79324
Lymphoproliferative Syndrome, X-Linked, 1
Lymphoma, Burkitt lymphoma, Hepatic failure, Neutropenia, Reduced natural killer cell activity, D... OMIM:308240
Lassa Fever
Diarrhea, Jaundice, Fever, Oliguria, Dysphagia ORPHA:99824
Riboflavin Transporter Deficiency
Diabetes insipidus, Cachexia, Hypogonadism ORPHA:97229
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Weight loss, Acute monocytic leukemia, Fever, Oliguria ORPHA:514
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Pancreatitis, Insulin resistance, Abnormality of skeletal muscle fiber size, Hepatic ... ORPHA:2348
Genetic Recurrent Myoglobinuria
Acute kidney injury, Exercise-induced myoglobinuria, Elevated hepatic transaminase, Fever, Oligur... ORPHA:99845
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... OMIM:619802
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Bifid scrotum, Cachexia, Supernumerary nipple, Fine hair, Failure to thri... ORPHA:217346
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hyperuricemia, Maternal diabetes, Insulin resistance, Pancreatitis, Abnormality of ske... ORPHA:79083
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... ORPHA:293964
Mcdonough Syndrome
Synophrys, Cachexia, Short stature, Cryptorchidism ORPHA:2471
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Short stature, Hypogonadism, Postnatal growth retardation OMIM:616113
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Diffuse pancr... ORPHA:276556
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Cellulitis, Decreased circulatin... OMIM:615513
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Ketonuria, Glycosuria, Elevated hepatic transaminase, Failure to thrive, Po... ORPHA:2089
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... ORPHA:52901
Asherman Syndrome
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... ORPHA:137686
Hypotrichosis 4
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes OMIM:146550
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Cirrhosis, Weight loss, Cholangiocarcinoma, Hepatocellular carcinoma, Chronic hep... ORPHA:465508
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Uterus didelphys, Metrorrhagia, Partial vaginal septum, Dyspareunia, Abnormal uterine cervix morp... ORPHA:3411
Permanent Congenital Hypothyroidism
Hypothyroidism, Hypothermia, Jaundice, Constipation, Umbilical hernia, Thyroid dysgenesis, Goiter ORPHA:226292
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Vomiting, Diarrhea, Hypothermia, Insulin resistance, Nocturia, Elevated urinary... ORPHA:230
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... ORPHA:83451
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity, Hypercholesterolemia OMIM:608320
Acquired Generalized Lipodystrophy
Lymphoma, Hyperinsulinemia, Cirrhosis, Astrocytoma, Insulin resistance, Hepatic steatosis, Acute ... ORPHA:79086
Systemic Capillary Leak Syndrome
Diarrhea, Weight loss, Abnormal renal tubule morphology, Multiple myeloma, Oliguria, Renal insuff... ORPHA:188
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea ORPHA:397685
Infection-Related Hemolytic Uremic Syndrome
Nephrotic range proteinuria, Bloody diarrhea, Vomiting, Anuria, Diarrhea, Acute kidney injury, De... ORPHA:544482
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple... OMIM:613101
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Gait disturbance, Hyperlipidemia OMIM:604484
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Vomiting, Diarrhea, Renal Fanconi syndrome, Glycosuri... ORPHA:263455
Leishmaniasis
Leukopenia, Anemia, Night sweats, Weight loss, Abnormal macrophage morphology, Increased circulat... ORPHA:507
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased serum leptin, Polyphagia, Obesity, Micropenis OMIM:614962
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Failure to thrive, Hep... OMIM:615285
Mullerian Aplasia And Hyperandrogenism
Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Hirsutism, Primary a... OMIM:158330
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Elevated circulating creatine kinase concentration, Decreased activity of mitochondrial complex I... OMIM:616209
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Vomiting, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondri... OMIM:251880
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... OMIM:613494
Isolated Thyroid-Stimulating Hormone Deficiency
Increased circulating prolactin concentration, Increased pituitary glycoprotein hormone alpha sub... ORPHA:90674
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Short stature ORPHA:1144
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Neutropenia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentration, Hem... OMIM:603552
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Hepatomegaly OMIM:606445
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Precocious puberty, Premature thelarche, Ambiguous genitalia, female, Decrea... ORPHA:90795
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Small for gestational age, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity, Hypergonadotropic hypogonadism OMIM:619737
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... ORPHA:2442
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility, Abnormal hair mor... ORPHA:3000
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hirsutism, Hypergonadotro... OMIM:300510
Androgen Insensitivity Syndrome
Sparse axillary hair, Ambiguous genitalia, male, Sparse pubic hair, Abnormality of the uterus, De... ORPHA:754
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Hepatic fibrosis, Flexion contracture, Abnormal subcutaneous fat tissue distribut... OMIM:212065
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... ORPHA:99429
Silver-Russell Syndrome
Precocious puberty, Short stature, Decreased testicular size, Cachexia, Premature adrenarche, Hyp... ORPHA:813
Solitary Fibrous Tumor/Hemangiopericytoma
Low back pain, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypophosphatem... ORPHA:2126
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Hirsutism, Premature pubarche, Short stature, Secondary amenorrhea OMIM:612847
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Lipodystrophy, Congenital Generalized, Type 4
Increased variability in muscle fiber diameter, Hyperinsulinemia, Flexion contracture, Centrally ... OMIM:613327
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Small for gestational age, Type I diabetes mellitus OMIM:606176
Hyperostosis Frontalis Interna
Irregular menstruation, Increased circulating prolactin concentration, Diabetes mellitus, Obesity... OMIM:144800
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypothermia, Thyroid hypoplasia, Hypoglycemia, Decreased circulating T4 concentration, Lethargy, ... ORPHA:226307
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Vomiting, Decreased body weight, Diarrhea, Acute tubulointerstitial... ORPHA:340
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H... OMIM:610947
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Flexion contracture, Increased facial adipose tissue, Imp... OMIM:248370
Short Syndrome
Small for gestational age, Insulin resistance, Inguinal hernia, Lipodystrophy, Insulin-resistant ... OMIM:269880
Microscopic Polyangiitis
Glomerulopathy, Renal insufficiency, Diarrhea, Hematuria, Fever, Oliguria, Gastrointestinal hemor... ORPHA:727
Immunodeficiency 64 With Lymphoproliferation
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, B-cell... OMIM:618534
Adenine Phosphoribosyltransferase Deficiency
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Renal insufficiency, Nephro... OMIM:614723
Necrotizing Enterocolitis
Bloody diarrhea, Vomiting, Abnormal glucose homeostasis, Diarrhea, Small for gestational age, Tem... ORPHA:391673
Beta-Ketothiolase Deficiency
Oral aversion, Vomiting, Diarrhea, Weight loss, Ketonuria, Ataxia, Agitation, Hypoglycemia, Fever... ORPHA:134
Isolated Agammaglobulinemia
Anemia, Cellulitis, Abnormality of the lymphatic system, Abnormality of neutrophils, Failure to t... ORPHA:229717
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegal... OMIM:278000
X-Linked Agammaglobulinemia
Anemia, Neutropenia, Weight loss, Cellulitis, Hepatitis, Abnormality of the lymphatic system, Fai... ORPHA:47
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Mantle Cell Lymphoma
Weight loss, B-cell lymphoma, Lymphadenopathy, Splenomegaly, Fatigue ORPHA:52416
Hypothyroidism Due To Tsh Receptor Mutations
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:90673
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Ar... OMIM:616050
Björnstad Syndrome
Alopecia, Hypogonadism, Brittle hair ORPHA:123
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:614727
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Increased intramuscular fat, Elevated circulating creatine kinase c... ORPHA:276435
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Myelodysplasia, Normocy... ORPHA:75564
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Inclusion Body Myositis
Abnormal muscle fiber morphology, Elevated circulating creatine kinase concentration, Myalgia, In... ORPHA:611
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormal spermatogenesis, Testicular microlithiasis, Secondary amenorrhea, Decreased circulating ... OMIM:228300
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Camptodactyly of toe, Inguinal hernia, Hypospadias, Hyperglycemia,... OMIM:175700
3-Hydroxy-3-Methylglutaric Aciduria
Diarrhea, Weight loss, Ketonuria, Hypothermia, Jaundice, Nonketotic hypoglycemia, Elevated hepati... ORPHA:20
Insulinoma
Hyperinsulinemia, Nonketotic hypoglycemia, Neuroendocrine neoplasm, Hyperinsulinemic hypoglycemia... ORPHA:97279
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Vomiting, Increased circulating free fatty acid level, Small for gestat... ORPHA:26793
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-posit... OMIM:300853
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Werner Syndrome
Melanoma, Neoplasm, Slender build, Cutaneous melanoma, Chondrocalcinosis, Breast carcinoma, Type ... ORPHA:902
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Cirrhosis, Jaundice, Abdominal pain, Acholic stools, Biliary tract abnormality,... ORPHA:1414
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Mildly elevated creatine kinase, Weakness of facial mu... ORPHA:457050
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Amelogenesis imperfecta, Abnormality of denta... ORPHA:1873
Macrophage Activation Syndrome
Hypertriglyceridemia, Increased circulating interleukin 6 concentration, Abnormality of tumor nec... ORPHA:158061
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Limb-girdle muscle weakness, Multiple joint contractures, Elevate... ORPHA:352470
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Diarrhea, Elevated hepatic transa... ORPHA:94086
Spontaneous Periodic Hypothermia
Hypothermia, Gait disturbance, Diarrhea, Ataxia ORPHA:29822
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... OMIM:274300
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypogonadism, Small for gestational age, Insulin resistance, Failure to thrive, Hy... ORPHA:73272
Central Precocious Puberty
Isosexual precocious puberty, Abnormality of secondary sexual hair, Premature thelarche, Proporti... ORPHA:759
Lujo Hemorrhagic Fever
Vomiting, Diarrhea, Fulminant hepatitis, Elevated hepatic transaminase, Fever, Nausea, Oliguria, ... ORPHA:319213
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Hirsutism, Oligomenorrhea, Obesity, Amenorrhea OMIM:184700
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Constitutional symptom, Hematological neoplasm, Decreased liver function, Thr... ORPHA:98850
Nemaline Myopathy 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Fatt... OMIM:256030
Diffuse Cutaneous Systemic Sclerosis
Gastroesophageal reflux, Flexion contracture, Oliguria, Xerostomia, Dysphagia, Renal insufficiency ORPHA:220393
Hypercalcemia, Infantile, 1
Vomiting, Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Nephrocalcinosis,... OMIM:143880
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Abnormality of the liver, Hepatomegaly ORPHA:1980
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosi... ORPHA:3226
Flynn-Aird Syndrome
Alopecia, Type II diabetes mellitus, Cachexia, Primary adrenal insufficiency, Abnormality of the ... ORPHA:2047
Polyglucosan Body Myopathy 2
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Elevated ci... OMIM:616199
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,... OMIM:607765
Aredyld Syndrome
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Short stature, Type II diabetes mellitus, Ca... ORPHA:1133
46,Xy Sex Reversal 1
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... OMIM:400044
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma, Posterior lenticonus ORPHA:231736
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Cachexia, Hypergonadotropic hypogonadism, Weight loss ORPHA:298
Preeclampsia
Increased body mass index, Small for gestational age, Abdominal pain, Elevated hepatic transamina... ORPHA:275555
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... ORPHA:331206
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Premature Ovarian Failure 7
Secondary amenorrhea, Premature ovarian insufficiency, Absent pubic hair, Elevated circulating lu... OMIM:612964
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocytopenia, Im... OMIM:308230
Felty Syndrome
Lymphoma, Anemia, Weight loss, Cellulitis, Arthralgia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:47612
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia ORPHA:529
Woolly Hair Nevus
Precocious puberty, Patchy hypopigmentation of hair, Curly hair, Congenital posterior occipital a... ORPHA:79414
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Decreased circulating antibody level, B-cell lymphoma, Pancytopenia, Autoimmu... OMIM:613011
Cronkhite-Canada Syndrome
Sparse body hair, Alopecia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Hypoplastic to... ORPHA:2930
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hyperlipidemia, ... OMIM:232700
Primary Lipodystrophy
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Lipody... ORPHA:90970
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth OMIM:619787
Gne Myopathy
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... ORPHA:602
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Polyphagia, Tall stature OMIM:618406
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Neuroendocrine neopla... ORPHA:100083
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... ORPHA:169154
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... OMIM:614841
Abdominal Obesity-Metabolic Syndrome 3
Type II diabetes mellitus, Truncal obesity, Hypercholesterolemia, Hyperglycemia, Hypertriglycerid... OMIM:615812
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:608594
Primary Myelofibrosis
Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Hemangioma, Lymphadenopathy, ... ORPHA:824
X-Linked Intellectual Disability, Cabezas Type
Hypogonadism, Short stature, Decreased testicular size, Synophrys, Cachexia, Hypoplasia of penis,... ORPHA:85293
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Reduced renal corticomedullary differenti... ORPHA:731
Erythrokeratodermia Variabilis
Alopecia, Weight loss, Abnormal testis morphology, Short stature, Abnormality of the nail, Diabet... ORPHA:317
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... OMIM:617514
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder, Obesity, Glucose intolerance ORPHA:369873
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly, Hepatomegaly OMIM:619175
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes OMIM:610582
Overlap Myositis
Leukopenia, Abnormal circulating lipid concentration, Abnormality of connective tissue, Perifasci... ORPHA:206572
Immunodeficiency 48
Panhypogammaglobulinemia, Failure to thrive, Absence of CD8-positive T cells, Hepatomegaly, Splen... OMIM:269840
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Refractory anemia with ringe... OMIM:133180
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Barth Syndrome
Abnormal mitochondrial morphology, Abnormality of neutrophils ORPHA:111
Merrf
Multiple lipomas, Myopathy, Ragged-red muscle fibers ORPHA:551
Rabson-Mendenhall Syndrome
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Impaired glucose toleranc... ORPHA:769
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Vomiting, Diarrhea, Type I diabetes mellitus, Ataxia, Failure to thrive, Po... OMIM:560000
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Sparse scalp hair, Small nail, Brittle scalp hair, Sparse axillary hair... ORPHA:189
Immunodeficiency 104
T lymphocytopenia, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Hepatome... OMIM:608971
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Bjornstad Syndrome
Alopecia, Dry hair, Pili torti, Hypogonadism, Brittle hair, Coarse hair, Hair shafts flattened at... OMIM:262000
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Chronic myelomonocytic leukemia, Myelodysplasia, Eosinophilia, Myeloproli... ORPHA:98849
Combined Oxidative Phosphorylation Deficiency 37
3-Methylglutaconic aciduria, Hypothermia, Elevated hepatic transaminase, Failure to thrive, Hypog... OMIM:618329
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Elevated circulati... OMIM:605820
Preeclampsia/Eclampsia 1
Thrombocytopenia, Elevated hepatic transaminase OMIM:189800
Congenital Hypothyroidism
Hypothyroidism, Hypogonadism, Anterior hypopituitarism, Hypothermia, Constipation, Intestinal obs... ORPHA:442
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Babesiosis
Leukopenia, Hepatic failure, Hemolytic anemia, Jaundice, Arthralgia, Myalgia, Hepatomegaly, Throm... ORPHA:108
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Weight loss, Premature graying of hair, Cachexia, Type I diabetes mellitus, Abnormal hair morphology ORPHA:1979
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Lower-limb joint contracture, Reduced pancreatic beta cells, Neonatal insu... ORPHA:99885
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Vomiting, Ketonuria, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Hyperglycemi... OMIM:615453
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... ORPHA:90794
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Generalized amyotrophy, Sideroblastic anemia, Elevated hepatic transaminase, Decreased activity o... OMIM:613561
Mu-Heavy Chain Disease
Anemia, Weight loss, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy... ORPHA:100024
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophi... OMIM:226990
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Erythroderma, Increased circulating interleukin 6 concentration, Abnormalit... ORPHA:540
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Aplasia of the uterus, Elev... OMIM:273250
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Alopecia, Precocious puberty, Hyperthyroidism, Abnormal testis morphology... ORPHA:457059
Functioning Gonadotropic Adenoma
Impotence, Decreased female libido, Anterior hypopituitarism, Oligospermia, Increased circulating... ORPHA:91348
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Increased serum testosterone level, Short stature, Synophrys, Abnormality... ORPHA:247768
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Complete o... OMIM:607271
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Schnitzler Syndrome
Lymphoma, Anemia, Arthralgia, Myalgia, Lymphadenopathy, Leukocytosis, Increased circulating IgM l... ORPHA:37748
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Elevated circulating growth hormone concentration, Insulin resistance, Insulin-r... ORPHA:90301
Cerebrooculofacioskeletal Syndrome 1
Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Small for gestation... OMIM:214150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... OMIM:601954
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic toenails, Fine hair, Abnormality of the nail, Abnormal fingernail morphology, Hypopla... ORPHA:2228
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Lipodystrophy, Familial Partial, Type 7
Recurrent pancreatitis, Diarrhea, Reduced subcutaneous adipose tissue, Hypercholesterolemia, Dysp... OMIM:606721
Hypouricemia, Renal, 1
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... OMIM:220150
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Dysdiadochokinesis, Gait disturbance, Insulin resistance, Ataxia, Unilateral rena... OMIM:616541
Cholera
Vomiting, Abnormality of renal excretion, Diarrhea, Acute kidney injury, Decreased urine output, ... ORPHA:173
Mehmo Syndrome
Gait ataxia, Decreased response to growth hormone stimulation test, Inability to walk, Small for ... OMIM:300148
Post-Traumatic Pituitary Deficiency
Abnormality of secondary sexual hair, Decreased response to growth hormone stimulation test, Decr... ORPHA:95619
Immunodeficiency 27A
Anemia, Night sweats, Weight loss, Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadeno... OMIM:209950
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Tetrasomy 12P
Sparse eyebrow, Cachexia, Sparse hair, Short stature ORPHA:884
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Short stature, Small for gestational age, Labial hypoplasia, Long eyelash... ORPHA:231137
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Failure to thrive, Hypoglycemia, Thrombocytopenia ORPHA:67048
Familial Multiple Lipomatosis
Medulloblastoma, Odontogenic keratocysts of the jaw, Increased adipose tissue, Insulin resistance... ORPHA:199276
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly OMIM:610329
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Cyclic Neutropenia
Perianal abscess, Cellulitis, Peritonitis, Decreased eosinophil count, Abdominal pain, Bone pain,... ORPHA:2686
Sea-Blue Histiocyte Disease
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... OMIM:269600
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:269700
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration OMIM:616278
Placental Insufficiency
Small for gestational age, Insulin resistance, Hypoxemia ORPHA:439167
Chylomicron Retention Disease
Increased hepatocellular lipid droplets, Elevated hepatic transaminase, Steatorrhea, EMG: myopath... ORPHA:71
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Eem Syndrome
Selective tooth agenesis, Widely spaced teeth, Microdontia, Abnormality of dental morphology, Abn... ORPHA:1897
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Diarrhea, Acholic stools, Diabetes me... OMIM:615710
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Primary Pigmented Nodular Adrenocortical Disease
Cutaneous myxoma, Elevated hepatic transaminase, Adrenal hyperplasia, Dorsocervical fat pad, Hepa... ORPHA:189439
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis,... OMIM:618528
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Vomiting, Hypopituitarism, Nausea, Hypercholesterolemia, Hyperglycemia, Alcoholism ORPHA:90065
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Impaired sensitivity to thyroid hormone, Constipation, Omphalocele, Co... OMIM:614450
Isolated Sedoheptulokinase Deficiency
Flexion contracture, Renal insufficiency, Hepatitis, Abnormal renal tubule morphology, Steatorrhe... ORPHA:440713
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Whipple Disease
Hypothyroidism, Diarrhea, Cachexia, Insulin resistance, Ataxia, Fever, Gastrointestinal hemorrhag... ORPHA:3452
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... ORPHA:206549
Combined Oxidative Phosphorylation Deficiency 38
Hyperalaninemia, Decreased activity of mitochondrial ATP synthase complex, Decreased activity of ... OMIM:618378
Alexander Disease
Hypothyroidism, Precocious puberty, Hypothermia, Gait disturbance, Ataxia, Diabetes mellitus, Fai... ORPHA:58
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Generalized hirsutism, Short stature ORPHA:1933
Rhabdoid Tumor
Anemia, Neoplasm of the central nervous system, Weight loss, Sarcoma, Neoplasm of the liver, Abdo... ORPHA:69077
Secondary Intestinal Lymphangiectasia