Martsolf syndrome 1

Preferred Label : Martsolf syndrome 1;

Symbol : MARTS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract-mental retardation-hypogonadism; MARTS; Martsolf syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RAB3 GTPase-activating protein subunit 2 gene (RAB3GAP2, 609275.0001);

Prefixed ID : #212720;

Details

Origin ID

212720;

UMLS CUI

C5542298;

Automatic exact mappings (from CISMeF team)
- mustelidae [MeSH Descriptor]
Currated CISMeF NLP mapping
- Cataract - intellectual deficit - hypogonadism [ICD-11 More detail]
- Cataract-intellectual disability-hypogonadism syndrome [ORDO Disease]
- Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) [SNOMED CT concept]
- Martsolf syndrome [DO Concept]
- Martsolf syndrome [MeSH concept]
- martsolf syndrome [MeSH Supplementary Concept]
DO Cross reference
- Martsolf syndrome [DO Concept]
Genes related to phenotype
- Rab3 gtpase-activating protein, noncatalytic subunit [OMIM gene]
HPO term(s)
- Abnormal toenail morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Broad fingertip [HPO term]
- Broad nasal tip [HPO term]
- Cardiac arrest [HPO term]
- Cardiomyopathy [HPO term]
- Congestive heart failure [HPO term]
- Cryptorchidism [HPO term]
- Delayed ability to sit [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental cataract [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties in infancy [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplasia of the toes [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Joint laxity [HPO term]
- Low anterior hairline [HPO term]
- Low nasal bridge [HPO term]
- Lumbar hyperlordosis [HPO term]
- Metatarsus adductus [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Mild maxillary hypoplasia [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent antitragus [HPO term]
- Prominent nipples [HPO term]
- Recurrent respiratory infections [HPO term]
- Short metacarpal [HPO term]
- Short palm [HPO term]
- Short phalanx of finger [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Short toe [HPO term]
- Slender ulna [HPO term]
- Spastic diplegia [HPO term]
- Talipes equinovarus [HPO term]
- Talipes valgus [HPO term]
- Tooth malposition [HPO term]
- Tracheomalacia [HPO term]
ORDO concept(s)
- Cataract-intellectual disability-hypogonadism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cataract - intellectual deficit - hypogonadism [ICD-11 More detail]
- Cataract-intellectual disability-hypogonadism syndrome [ORDO Disease]
- Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) [SNOMED CT concept]
- Martsolf syndrome [MeSH concept]
- Martsolf syndrome [DO Concept]
- martsolf syndrome [MeSH Supplementary Concept]

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