Kahrizi syndrome

Preferred Label : Kahrizi syndrome;

Symbol : KHRZ;

CISMeF acronym : KHRZ;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, cataract, coloboma, and kyphosis, autosomal recessive;

Description : Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009). See also congenital disorder of glycosylation type Iq (CDG1Q; 612379), an allelic disorder with overlapping features.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the steroid 5-alpha-reductase 3 gene (SRD5A3, 611715.0006).;

Prefixed ID : #612713;

Details

Origin ID

612713;

UMLS CUI

C2675185;

Automatic exact mappings (from CISMeF team)
- SRD5A3 congenital disorder of glycosylation [ICD-11 More detail]
Currated CISMeF NLP mapping
- Kahrizi syndrome [DO Concept]
- Kahrizi syndrome [ORDO Disease]
- kahrizi syndrome [MeSH concept]
- kahrizi syndrome [MeSH Supplementary Concept]
DO Cross reference
- Kahrizi syndrome [DO Concept]
Genes related to phenotype
- Steroid 5-alpha-reductase 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bulbous nose [HPO term]
- Capillary hemangioma [HPO term]
- Cataract [HPO term]
- Congenital onset [HPO term]
- Elbow contracture [HPO term]
- Elbow flexion contracture [HPO term]
- Facial hemangioma [HPO term]
- Full lips [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Iris coloboma [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Motor delay [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Thick lower lip vermilion [HPO term]
- Thick vermilion border [HPO term]
- Thoracic kyphosis [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Kahrizi syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kahrizi syndrome [ORDO Disease]
- Kahrizi syndrome [DO Concept]
- kahrizi syndrome [MeSH Supplementary Concept]
- kahrizi syndrome [MeSH concept]

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