Disease #07145 (MITCH (Mitchell syndrome), OMIM:618960)

Official abbreviation MITCH
Name Mitchell syndrome
OMIM ID 618960
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 5
Phenotype entries for this disease 4
Associated with 1 gene ACOX1
Associated tissues -
Disease features -
Remarks -
Date created 2025-01-07 15:29:40 +01:00 (CET)
Date last edited N/A


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00460007 patient PubMed: Shen 2023 2-generation family, 1 affected, unaffected non carrier parents F - China - - - - - MITCH see paper; ..., 7y-diffuse desquamatory rash, gait instability, ptosis with photophobia, hearing loss, abdominal pain, diarrhea, nausea, dysuria - ACOX1 1 1 Johan den Dunnen
00460009 patient Swartwood 2021 acc. to PubMed: Shen 2023 - - - - - - - - - MITCH - - ACOX1 1 1 Johan den Dunnen
00460013 Pat1 PubMed: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents M - China Han - - - - MITCH see paper; ..., diffused erythroderma with whitish fine scales, hyperkeratosis plaques with brown coarse scales, pruritus; no alopecia; hearing loss; reduced visual acuity; ataxia; polyneuropathy; normal to impaired cognition; no gastrointestinal symptoms; no dysuria; normal white matter demyelination - ACOX1 1 1 Johan den Dunnen
00460014 Pat2 PubMed: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents F - China Han - - - - MITCH see paper; ..., erythema, hyperkeratosis with gray-to-brown scales, fissures, follicular papules, pruritus; no alopecia; hearing loss; allergic conjunctivitis; ataxia; polyneuropathy; normal to impaired cognition; seizures; no gastrointestinal symptoms; no dysuria - ACOX1 1 1 Johan den Dunnen
00460015 patient PubMed: Filippi 2024 2-generation family, 1 affected, unaffected non carrier father F - Italy - - - - - MITCH see paper; ..., ,progressive sensorineural deafness visual abnormalities, skin ichthyosis; infantile age gait ataxia, progressive worsening, 10y-loss of walking - ACOX1, TOR1A 2 1 Johan den Dunnen
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