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11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
24 signs/symptoms
MODY syndrome
Pitt-Hopkins syndrome

ABCC8 TCF4
BLK
CEL
GCK
HNF1A
HNF4A
INS
KCNJ11
KLF11
NEUROD1
PAX4
PDX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NEUROD1
(0.52)
TCF4



Citations in the biomedical literature:


MODY syndrome
ABCC8 BLK CEL GCK HNF1A HNF4A
INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1

Pitt-Hopkins syndrome
TCF4



MODY syndrome
Pitt-Hopkins syndrome

Synonym(s):
- Maturity-onset diabetes of the young

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
11 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537403

Pitt-Hopkins syndrome

Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anteverted nares / nostrils
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal dominant inheritance
- Constipation
- Deepset eyes / enophthalmos
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Helix thickened / sculpted
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrostomia / big mouth
- Microcephaly
- Palate anomalies
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thick lips

Frequent
- Apnea / sleep apnea
- Myopia
- Respiratory rhythm disorder
- Seizures / epilepsy / absences / spasms / status epilepticus
- Tapered fingers
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Irregular / patchy skin hypopigmentation
- Micropenis / small penis / agenesis


MODY syndrome

(no data available)