Huppke-brendel syndrome

Preferred Label : Huppke-brendel syndrome;

Symbol : HPBDS;

CISMeF acronym : CCHLND;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Acetyl-coa transporter deficiency; Congenital cataracts, hearing loss, and neurodegeneration; CCHLND;

Description : Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination (summary by Huppke et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 33 (acetyl-CoA transporter), member 1 gene (SLC33A1, 603690.0002);

Laboratory abnormalities : Decreased serum copper; Decreased serum ceruloplasmin;

Prefixed ID : #614482;

Details

Origin ID

614482;

UMLS CUI

C4751114;

Currated CISMeF NLP mapping
- Congenital cataract, hearing loss, severe developmental delay syndrome (disorder) [SNOMED CT concept]
- Congenital cataract-hearing loss-severe developmental delay syndrome [ORDO Disease]
- congenital cataracts hearing loss and neurodegeneration [Disease (Nov.)]
Genes related to phenotype
- Solute carrier family 33 (acetyl-coa transporter), member 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- CNS hypomyelination [HPO term]
- Cataract [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Decreased circulating ceruloplasmin concentration [HPO term]
- Developmental cataract [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Nystagmus [HPO term]
- Progressive [HPO term]
- Psychomotor retardation [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Congenital cataract-hearing loss-severe developmental delay syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital cataract, hearing loss, severe developmental delay syndrome (disorder) [SNOMED CT concept]
- Congenital cataract-hearing loss-severe developmental delay syndrome [ORDO Disease]
- congenital cataracts hearing loss and neurodegeneration [Disease (Nov.)]

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