Warburg micro syndrome 1

Preferred Label : Warburg micro syndrome 1;

Symbol : WARBM1;

CISMeF acronym : WARBM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Micro syndrome; Warburg micro syndrome; WARBM;

Description : Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). - Genetic Heterogeneity of Warburg Micro Syndrome Also see WARBM2 (614225), caused by mutation in the RAB3GAP2 gene (609275) on chromosome 1q41, and WARBM3 (614222), caused by mutation in the RAB18 gene (602207) on chromosome 10p12.1.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RAB3 GTPase-activating protein subunit 1 gene (RAB3GAP1, 602536.0001);

Prefixed ID : #600118;

Details

Origin ID

600118;

UMLS CUI

C1838625;

Automatic exact mappings (from CISMeF team)
- RAB3 GTPase activating protein catalytic subunit 1 [ORDO Gene]
- RAB3 GTPase activating protein catalytic subunit 1 [HGNC gene]
- symbol withdrawn WARBM1 [HGNC gene]
Currated CISMeF NLP mapping
- Micro syndrome [ORDO Disease]
- Warburg Sjo Fledelius syndrome [MeSH concept]
- Warburg micro syndrome [DO Concept]
- Warburg micro syndrome 1 [DO Concept]
- warburg sjo fledelius syndrome [MeSH Supplementary Concept]
DO Cross reference
- Warburg micro syndrome 1 [DO Concept]
Genes related to phenotype
- Rab3 gtpase-activating protein, catalytic subunit [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Cryptorchidism [HPO term]
- Deeply set eye [HPO term]
- Delayed CNS myelination [HPO term]
- Developmental cataract [HPO term]
- Enlarged sylvian cistern [HPO term]
- External genital hypoplasia [HPO term]
- Facial hypertrichosis [HPO term]
- Failure to thrive [HPO term]
- Hyperreflexia [HPO term]
- Hypertrichosis [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Kyphoscoliosis [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Narrow forehead [HPO term]
- Narrow mouth [HPO term]
- Optic atrophy [HPO term]
- Osteoporosis [HPO term]
- Overlapping toe [HPO term]
- Perisylvian polymicrogyria [HPO term]
- Postnatal failure to thrive [HPO term]
- Ptosis [HPO term]
- Short stature [HPO term]
- Spastic diplegia [HPO term]
- Thin vermilion border [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Micro syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Micro syndrome [ORDO Disease]
- Warburg Sjo Fledelius syndrome [MeSH concept]
- Warburg micro syndrome [DO Concept]
- Warburg micro syndrome (disorder) [SNOMED CT concept]
- Warburg micro syndrome 1 [DO Concept]
- micro syndrome [Disease (Nov.)]
- warburg sjo fledelius syndrome [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Micro syndrome [ICD-11 More detail]
- Warburg micro syndrome (disorder) [SNOMED CT concept]
- micro syndrome [Disease (Nov.)]

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