Hyperekplexia 4

Preferred Label : Hyperekplexia 4;

Symbol : HKPX4;

CISMeF acronym : HKPX4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATPase family, AAA domain-containing, member 1 gene (ATAD1, 614452.0001);

Prefixed ID : #618011;

Details

Origin ID

618011;

UMLS CUI

C4693933;

Automatic exact mappings (from CISMeF team)
- hyperekplexia 4 [DO Concept]
Genes related to phenotype
- Atpase family, aaa domain-containing, member 1 [OMIM gene]
HPO term(s)
- Adducted thumb [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Cerebral atrophy [HPO term]
- Congenital onset [HPO term]
- Distal arthrogryposis [HPO term]
- Encephalopathy [HPO term]
- Flexion contracture [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hypsarrhythmia [HPO term]
- Inguinal hernia [HPO term]
- Kyphoscoliosis [HPO term]
- Myoclonus [HPO term]
- Progressive [HPO term]
- Respiratory failure [HPO term]
- Seizure [HPO term]
- Talipes equinovarus [HPO term]
- Umbilical hernia [HPO term]
Not associated HPO term(s)
- Infantile spasms [HPO term]
ORDO concept(s)
- Hereditary hyperekplexia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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