Disease #01645 (ALMS (Alstrom syndrome (ALMS)), OMIM:203800)

Official abbreviation ALMS
Name Alstrom syndrome (ALMS)
OMIM ID 203800
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene ALMS1
Associated tissues -
Disease features -
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00073166 26077327-PatIII4 PubMed: Lazar 2015, Journal: Lazar 2015 brother M yes Palestine - - 0 - - ALMS, LGMD2B muscular dystrophy (HP:0003560), elevated serum creatine phosphokinase (HP:0003236), lower limb muscle weakness (HP:0007340), Visual loss (HP:0000572), Photophobia (HP:0000613), Pendular nystagmus (HP:0012043), ALMS1, DYSF ALMS1, DYSF 3 1 Pieter Klap
00081023 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - ALMS Alstrom syndrome (OMIM:203800) ALMS1 ALMS1 1 1 Daniel Trujillano
00358830 176610 - - F - Germany - - 0 - - ALMS (+) Renal insufficiency,(+) Hearing impairment,(+) Depressivity,(+) Hepatic steatosis,(+) Obesity,(+) Dilated cardiomyopathy,(+) Type II diabetes mellitus,(+) Retinitis / Sister cardiomyopathy at 23 yrs also RP, hearing loss, kidney and liver problems. ALMS1 ALMS1 2 1 Andreas Laner
Legend   How to query