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Fuchs endothelial corneal dystrophy

8 OMIM references -
5 associated genes
No signs/symptoms info

COMMON GENES: 1

Pitt-Hopkins syndrome

1 OMIM reference -
1 associated gene
24 signs/symptoms

Fuchs endothelial corneal dystrophy

Pitt-Hopkins syndrome

AGBL1	(UniProt - OMIM)		TCF4	(UniProt - OMIM)
COL8A2	(UniProt - OMIM)
SLC4A11	(UniProt - OMIM)
TCF4	(UniProt - OMIM)
ZEB1	(UniProt - OMIM)


COMMON GENES	TCF4

Citations in the biomedical literature:

Fuchs endothelial corneal dystrophy		Pitt-Hopkins syndrome
	Synonym(s): - Endoepithelial corneal dystrophy - FECD - Late hereditary endothelial dystrophy		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Diseases of the eye and adnexa -		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: 8 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
Fuchs endothelial corneal dystrophy
(no data available)