Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy

Preferred Label : Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy;

Symbol : SEMDHL;

CISMeF acronym : SEMDHL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Semd, X-linked, with mental deterioration; LKMCD; SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH MENTAL DETERIORATION; Leukoencephalopathy with metaphyseal chondrodysplasia;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the apoptosis-inducing factor, mitochondria-associated, 1 gene (AIFM1, 300169.0008);

Prefixed ID : #300232;

Details

Origin ID

300232;

UMLS CUI

C1846148;

Automatic exact mappings (from CISMeF team)
- AIFM1 wt Allele [NCIt concept]
- Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome [ORDO Disease]
- Skeletal dysplasia coarse facies mental retardation [MeSH concept]
- Skeletal dysplasia coarse facies mental retardation [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia Bieganski type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, Bieganski type [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia, Bieganski type [ORDO Disease]
Genes related to phenotype
- Apoptosis-inducing factor, mitochondria-associated, 1 [OMIM gene]
HPO term(s)
- Anterior rib cupping [HPO term]
- Brachydactyly [HPO term]
- Broad foot [HPO term]
- Broad nasal tip [HPO term]
- Broad palm [HPO term]
- Coarse facial features [HPO term]
- Cone-shaped capital femoral epiphysis [HPO term]
- Coxa vara [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Flared iliac wing [HPO term]
- Flattened epiphysis [HPO term]
- Flattened nasal bridge [HPO term]
- Flexion contracture [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Intellectual disability, progressive [HPO term]
- Low anterior hairline [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Metaphyseal cupping of metacarpals [HPO term]
- Metaphyseal widening [HPO term]
- Midface retrusion [HPO term]
- Optic disc pallor [HPO term]
- Peg-like central prominence of distal tibial metaphyses [HPO term]
- Platyspondyly [HPO term]
- Prominent sternum [HPO term]
- Seizure [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short finger [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Small epiphyses [HPO term]
- Small, flattened epiphyses [HPO term]
- Spondyloepimetaphyseal dysplasia [HPO term]
- Thick eyebrow [HPO term]
- Thin ribs [HPO term]
- Thoracic kyphosis [HPO term]
- Widened subarachnoid space [HPO term]
- Wormian bones [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome [ORDO Disease]
- Spondyloepimetaphyseal dysplasia, Bieganski type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Skeletal dysplasia coarse facies mental retardation [MeSH Supplementary Concept]
- Skeletal dysplasia coarse facies mental retardation [MeSH concept]
- Spondyloepimetaphyseal dysplasia, Bieganski type [ORDO Disease]
- Spondyloepimetaphyseal dysplasia, Bieganski type [ICD-11 More detail]

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