Dermatoosteolysis, Kirghizian type

MedGen UID:: 341742
•Concept ID:: C1857301
•: Disease or Syndrome

Synonym:	Autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia
SNOMED CT:	Dermatoosteolysis Kirghizian type (721090002); Kirghizian dermatoosteolysis (721090002)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0009095
OMIM®:	221810
Orphanet:	ORPHA1657

Definition

Disease with characteristics of recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five siblings in a family of Kirghizian origin (Central Asia). Three of the siblings also presented with keratitis leading to visual impairment or blindness. Transmission is autosomal recessive. [from SNOMEDCT_US]

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GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDermatoosteolysis, Kirghizian type

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Ectodermal dysplasia
      - Dermatoosteolysis, Kirghizian type

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Dermatoosteolysis, Kirghizian type

Definition

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