Spondyloepiphyseal dysplasia, kondo-fu type

Preferred Label : Spondyloepiphyseal dysplasia, kondo-fu type;

Symbol : SEDKF;

CISMeF acronym : SEDKF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sed with elevated blood lysosomal enzymes;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the membrane-bound transcription factor protease, site-1 gene (603355.0001);

Laboratory abnormalities : Markedly elevated lysosomal enzymes; Elevated beta-galactosidase; Elevated beta-mannosidase; Elevated alpha-glucosaminidase; Elevated beta-hexosaminidase; Elevated beta-glucuronidase; Elevated alpha-mannosidase;

Prefixed ID : #618392;

Details

Origin ID

618392;

UMLS CUI

C5193071;

Genes related to phenotype
- Membrane-bound transcription factor protease, site 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Decreased body weight [HPO term]
- Delayed ossification of carpal bones [HPO term]
- Kyphosis [HPO term]
- Macrotia [HPO term]
- Pectus carinatum [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent forehead [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
- Waddling gait [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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