Neuropathy, hereditary sensory and autonomic, type ix, with developmental delay

Preferred Label : Neuropathy, hereditary sensory and autonomic, type ix, with developmental delay;

Symbol : HSAN9;

CISMeF acronym : SPG49;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spastic paraplegia 49, autosomal recessive; SPG49;

Description : SPG49 is an autosomal recessive complicated form of spastic paraplegia, a neurodegenerative disorder of the corticospinal tracts. It is characterized by delayed psychomotor development, mental retardation, and onset of spastic paraplegia in the first decade. Affected individuals also have dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, which may be fatal (summary by Oz-Levi et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tectonin beta-propeller repeat-containing protein 2 gene (TECPR2, 615000.0001);

Prefixed ID : #615031;

Details

Origin ID

615031;

UMLS CUI

C3542549;

Automatic exact mappings (from CISMeF team)
- cytochrome P450 family 2 subfamily U member 1 [ORDO Gene]
- cytochrome P450 family 2 subfamily U member 1 [HGNC gene]
Currated CISMeF NLP mapping
- Hereditary sensory and autonomic neuropathy due to TECPR2 mutation [ORDO Disease]
- Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 49 [DO Concept]
DO Cross reference
- hereditary spastic paraplegia 49 [DO Concept]
Genes related to phenotype
- Tectonin beta-propeller repeat-containing protein 2 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Broad neck [HPO term]
- Central apnea [HPO term]
- Cerebral atrophy [HPO term]
- Dental crowding [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Gait ataxia [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypomimic face [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Low anterior hairline [HPO term]
- Microcephaly [HPO term]
- Round face [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
ORDO concept(s)
- Hereditary sensory and autonomic neuropathy due to TECPR2 mutation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary sensory and autonomic neuropathy due to TECPR2 mutation [ORDO Disease]
- hereditary spastic paraplegia 49 [DO Concept]

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