ODCs

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1 OMIM reference -
1 associated gene
14 signs/symptoms

PROTEIN INTERACTIONS: 1

Pitt-Hopkins syndrome

1 OMIM reference -
1 associated gene
24 signs/symptoms

Naxos disease

Pitt-Hopkins syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JUP	(0.55)	TCF4

Citations in the biomedical literature:

Naxos disease		Pitt-Hopkins syndrome
	Synonym(s): - Keratosis palmoplantaris with arrythmogenic cardiomyopathy - Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy - Palmoplantar keratoderma with arrythmogenic cardiomyopathy		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive		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 - 1 MeSH reference: C538346		External references: 1 OMIM reference - 1 MeSH reference: C537403

Naxos disease		Pitt-Hopkins syndrome
	Very frequent - Abnormal hair texture / hair dysplasia - Autosomal recessive inheritance - Cardiac rhythm disorder / arrhythmia - Cardiomyopathy / hypertrophic / dilated - Dizziness - Palmoplantar hyperkeratosis / keratoderma - Woolly / frizzy hair Frequent - Brittle hair / distrix / trichorrhexis - Cleft lip - Heart / cardiac failure - Hyperhidrosis / increased sweating - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness Occasional - Acanthosis nigricans - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest		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