Short stature, optic nerve atrophy, and pelger-huet anomaly

Preferred Label : Short stature, optic nerve atrophy, and pelger-huet anomaly;

Symbol : SOPH;

CISMeF acronym : SOPH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Soph syndrome;

Description : Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see 169400), and normal intelligence.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the neuroblastoma-amplified sequence gene (NBAS, 608025.0001);

Prefixed ID : #614800;

Details

Origin ID

614800;

UMLS CUI

C3541319;

Automatic exact mappings (from CISMeF team)
- NBAS wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) [SNOMED CT concept]
- Short stature-optic atrophy-Pelger-Huët anomaly syndrome [ORDO Disease]
Genes related to phenotype
- Nbas subunit of nrz tethering complex [OMIM gene]
HPO term(s)
- Achromatopsia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Cutis laxa [HPO term]
- Delayed skeletal maturation [HPO term]
- Epicanthus [HPO term]
- Facial asymmetry [HPO term]
- Fine hair [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Micromelia [HPO term]
- Myopia [HPO term]
- Narrow forehead [HPO term]
- Nonprogressive visual loss [HPO term]
- Optic atrophy [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent glabella [HPO term]
- Proptosis [HPO term]
- Reduced visual acuity [HPO term]
- Sandal gap [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Strabismus [HPO term]
- Syndactyly [HPO term]
- Thick eyebrow [HPO term]
- Thin vermilion border [HPO term]
ORDO concept(s)
- Short stature-optic atrophy-Pelger-Huët anomaly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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