MCID: DRM042
MIFTS: 19

Dermatoosteolysis, Kirghizian Type

Categories: Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Dermatoosteolysis, Kirghizian Type

MalaCards integrated aliases for Dermatoosteolysis, Kirghizian Type:

Name: Dermatoosteolysis, Kirghizian Type 57 59
Dermatoosteolysis Kirghizian Type 53 73
Kirghizian Dermatoosteolysis 57 53
Autosomal Recessive Syndrome of Skin Ulceration, Arthroosteolysis with Pseudoacromegaly, Keratitis, and Oligodontia 53

Characteristics:

Orphanet epidemiological data:

59
dermatoosteolysis, kirghizian type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

32
dermatoosteolysis, kirghizian type:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Dermatoosteolysis, Kirghizian Type

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1657Disease definitionDermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive.Visit the Orphanet disease page for more resources.

MalaCards based summary : Dermatoosteolysis, Kirghizian Type, is also known as dermatoosteolysis kirghizian type, and has symptoms including recurrent fevers Affiliated tissues include skin, and related phenotypes are osteoarthritis and scoliosis

Description from OMIM: 221810

Related Diseases for Dermatoosteolysis, Kirghizian Type

Symptoms & Phenotypes for Dermatoosteolysis, Kirghizian Type

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
visual impairment
blindness
keratitis

Skeletal Feet:
ankle swelling
broad feet

Skeletal:
arthralgia (hands, feet, ankles, and knees)

Skeletal Limbs:
fistulous osteolysis around joints
knee swelling

Skin Nails Hair Skin:
recurrent skin ulcerations (face, trunk, limbs)

Head And Neck Teeth:
oligodontia

Skin Nails Hair Nails:
dystrophic nails

Skeletal Spine:
secondary scoliosis

Skeletal Hands:
claw hands
flexion contractures (fingers)

Metabolic Features:
recurrent fevers


Clinical features from OMIM:

221810

Human phenotypes related to Dermatoosteolysis, Kirghizian Type:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002758
2 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
3 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
4 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
5 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
6 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
7 nyctalopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000662
8 keratitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000491
9 aplasia/hypoplasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008065
10 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
11 abnormality of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0001155
12 osteolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002797
13 abnormal diaphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0000940
14 tarsal synostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008368
15 dystrophic toenail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001810
16 dystrophic fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0008391
17 abnormality of the wrist 59 32 hallmark (90%) Very frequent (99-80%) HP:0003019
18 oligodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000677
19 abnormality of the dentition 59 Occasional (29-5%)
20 blindness 32 HP:0000618
21 flexion contracture 32 HP:0001371
22 abnormality of the nail 59 Frequent (79-30%)
23 nail dystrophy 32 HP:0008404
24 abnormality of the foot 59 Very frequent (99-80%)
25 split hand 32 HP:0001171
26 nail dysplasia 32 HP:0002164
27 broad foot 32 HP:0001769
28 ankle swelling 32 HP:0001785
29 joint contracture of the hand 32 HP:0009473

UMLS symptoms related to Dermatoosteolysis, Kirghizian Type:


recurrent fevers

Drugs & Therapeutics for Dermatoosteolysis, Kirghizian Type

Search Clinical Trials , NIH Clinical Center for Dermatoosteolysis, Kirghizian Type

Genetic Tests for Dermatoosteolysis, Kirghizian Type

Anatomical Context for Dermatoosteolysis, Kirghizian Type

MalaCards organs/tissues related to Dermatoosteolysis, Kirghizian Type:

41
Skin

Publications for Dermatoosteolysis, Kirghizian Type

Variations for Dermatoosteolysis, Kirghizian Type

Expression for Dermatoosteolysis, Kirghizian Type

Search GEO for disease gene expression data for Dermatoosteolysis, Kirghizian Type.

Pathways for Dermatoosteolysis, Kirghizian Type

GO Terms for Dermatoosteolysis, Kirghizian Type

Sources for Dermatoosteolysis, Kirghizian Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....