Spondyloepimetaphyseal dysplasia, Pakistani type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE SPONDYLODYSPLASIA AND PREMATURE PUBARCHE SEMD, PAKISTANI TYPE |
| Number of Symptoms | 25 |
| OrphanetNr: | 93282 |
| OMIM Id: |
612847
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| ICD-10: |
Q77.7 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 17 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Sulfation-related bone disorder -Rare genetic disease |
Symptom Information:
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(HPO:0000869) | Secondary amenorrhea | 42 / 7739 | ||||
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(HPO:0012411) | Premature pubarche | 3 / 7739 | ||||
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(HPO:0000826) | Precocious puberty | 42 / 7739 | ||||
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(HPO:0100000) | Early onset of sexual maturation | 9 / 7739 | ||||
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(HPO:0002651) | Spondyloepimetaphyseal dysplasia | 19 / 7739 | ||||
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(HPO:0002979) | Bowing of the legs | 28 / 7739 | ||||
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(HPO:0000926) | Platyspondyly | 150 / 7739 | ||||
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(HPO:0004626) | Lumbar scoliosis | 5 / 7739 | ||||
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(HPO:0009816) | Lower limb undergrowth | 6 / 7739 | ||||
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(HPO:0002751) | Kyphoscoliosis | 131 / 7739 | ||||
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(HPO:0001156) | Brachydactyly syndrome | 180 / 7739 | ||||
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(HPO:0003301) | Irregular vertebral endplates | 25 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0001007) | Hirsutism | 91 / 7739 | ||||
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(HPO:0001061) | Acne | 33 / 7739 | ||||
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(MedDRA:10065597) | Hyperandrogenism | 4 / 7739 | ||||
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(OMIM) | Metaphyseal changes, mild, of knees and hips | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | DHEA sulfotransferase below limit of detection | 1 / 7739 | ||||
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(OMIM) | Dehydroepiandrosterone (DHEA) at upper level of normal range | 1 / 7739 | ||||
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(OMIM) | Enlarged knee joints | 1 / 7739 | ||||
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(OMIM) | Elevated androstenedione and testosterone | 1 / 7739 | ||||
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(OMIM) | Short and bowed lower limbs | 1 / 7739 | ||||
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(OMIM) | Brachydactyly, mild | 5 / 7739 | ||||
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(OMIM) | Osteoarthropathy, precocious | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
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, ... |
| Clinical Description OMIM |
Ahmad et al. (1998) described a large 8-generation consanguineous Pakistani family with a distinct form of spondyloepimetaphyseal dysplasia (SEMD). The authors evaluated 16 affected family members, 11 males and 5 females; pedigree analysis strongly suggested autosomal recessive inheritance. ... |
| Molecular genetics OMIM |
In an 8-generation Pakistani family with SEMD mapping to chromosome 10q23-q24, ul Haque et al. (1998) sequenced the ATPSK2 gene (PAPSS2; 603005) and identified homozygosity for a nonsense mutation (603005.0001) in all affected individuals; all obligate carriers were ... |