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Familial parathyroid adenoma

1 OMIM reference -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 2

Pitt-Hopkins syndrome

1 OMIM reference -
1 associated gene
24 signs/symptoms

Familial parathyroid adenoma

Pitt-Hopkins syndrome

CDC73	(UniProt - OMIM)		TCF4	(UniProt - OMIM)
MEN1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CDC73 MEN1	(0.7) (0.68)	TCF4 TCF4

Citations in the biomedical literature:

Familial parathyroid adenoma		Pitt-Hopkins syndrome

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare oncologic 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: (no data available)		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: 1 OMIM reference - 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
Familial parathyroid adenoma
(no data available)