Smith-mccort dysplasia 1

Preferred Label : Smith-mccort dysplasia 1;

Symbol : SMC1;

CISMeF acronym : SMC; SMC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SMC;

Description : Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen disease. Spinal cord compression due to atlantoaxial instability occurs in both SMC and DMC (Spranger et al., 1976; Nakamura et al., 1997). - Genetic Heterogeneity of Smith-McCort Dysplasia Smith-McCort dysplasia-2 (SMC2; 615222) is caused by mutation in the RAB33B gene (605950) on chromosome 18p.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the FLJ90140 gene (FLJ90130, 607461.0005);

Prefixed ID : #607326;

Details

Origin ID

607326;

UMLS CUI

C3888088;

Automatic exact mappings (from CISMeF team)
- Congenital myasthenic syndrome [ORDO Disease]
- dymeclin [ORDO Gene]
- myasthenic syndromes, congenital [MeSH Descriptor]
- subrhabdomeral cisterna [GO term]
Currated CISMeF NLP mapping
- Smith McCort dysplasia (disorder) [SNOMED CT concept]
- Smith-McCort dysplasia [ICD-11 More detail]
- Smith-McCort dysplasia [DO Concept]
- Smith-McCort dysplasia [MeSH concept]
- Smith-McCort dysplasia [MeSH Supplementary Concept]
- Smith-McCort dysplasia [ORDO Disease]
DO Cross reference
- Smith-McCort dysplasia [DO Concept]
False automatic mappings
- Safety Monitoring Committee [NCIt concept]
Genes related to phenotype
- Dymeclin [OMIM gene]
HPO term(s)
- Anterior beaking of vertebral bodies [HPO term]
- Atlantoaxial instability [HPO term]
- Autosomal recessive inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Beaking of vertebral bodies [HPO term]
- Deformed sella turcica [HPO term]
- Delayed femoral head ossification [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Dolichocephaly [HPO term]
- Genu valgum [HPO term]
- Genu varum [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Hypoplastic acetabulae [HPO term]
- Hypoplastic facial bones [HPO term]
- Hypoplastic scapulae [HPO term]
- Irregular epiphyses [HPO term]
- Kyphosis [HPO term]
- Metaphyseal irregularity [HPO term]
- Microcephaly [HPO term]
- Multicentric femoral head ossification [HPO term]
- Platyspondyly [HPO term]
- Prominent sternum [HPO term]
- Scoliosis [HPO term]
- Short metacarpal [HPO term]
- Short phalanx of finger [HPO term]
- Short scapulae [HPO term]
- Waddling gait [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Smith-McCort dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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