Brachyolmia type 4 with mild epiphyseal and metaphyseal changes

Preferred Label : Brachyolmia type 4 with mild epiphyseal and metaphyseal changes;

Symbol : BCYM4;

CISMeF acronym : BCYM4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spondylodysplasia and premature pubarche; Semd, pakistani type; Spondyloepimetaphyseal dysplasia, pakistani type;

Description : This form of brachyolmia, here designated brachyolmia type 4, is characterized by short-trunk stature with normal intelligence and facies. The radiographic features include rectangular vertebral bodies with irregular endplates and narrow intervertebral discs, precocious calcification of rib cartilages, short femoral neck, mildly shortened metacarpals, and mild epiphyseal and metaphyseal changes of the tubular bones (summary by Miyake et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 gene (PAPSS2, 603005.0001);

Laboratory abnormalities : Elevated androstenedione and testosterone; DHEA sulfotransferase below limit of detection; Dehydroepiandrosterone (DHEA) at upper level of normal range;

Prefixed ID : #612847;

Details

Origin ID

612847;

UMLS CUI

C2748515;

Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, PAPSS2 type [ORDO Disease]
- spondylodysplasia and premature pubarche [MeSH concept]
- spondylodysplasia and premature pubarche [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia, Pakistani type [DO Concept]
- spondyloepimetaphyseal dysplasia, pakistani type [MeSH concept]
- spondyloepimetaphyseal dysplasia, pakistani type [MeSH Supplementary Concept]
DO Cross reference
- spondyloepimetaphyseal dysplasia, Pakistani type [DO Concept]
Genes related to phenotype
- 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 [OMIM gene]
HPO term(s)
- Acne [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bowing of the legs [HPO term]
- Brachydactyly [HPO term]
- Hirsutism [HPO term]
- Irregular vertebral endplates [HPO term]
- Kyphoscoliosis [HPO term]
- Lower limb undergrowth [HPO term]
- Lumbar scoliosis [HPO term]
- Platyspondyly [HPO term]
- Premature pubarche [HPO term]
- Secondary amenorrhea [HPO term]
- Short stature [HPO term]
- Spondyloepimetaphyseal dysplasia [HPO term]
ORDO concept(s)
- Spondyloepimetaphyseal dysplasia, PAPSS2 type [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, PAPSS2 type [ORDO Disease]
- spondyloepimetaphyseal dysplasia, pakistani type [MeSH concept]
- spondyloepimetaphyseal dysplasia, pakistani type [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients