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 58 60
Dermatoosteolysis Kirghizian Type 54 74
Kirghizian Dermatoosteolysis 58 54
Autosomal Recessive Syndrome of Skin Ulceration, Arthroosteolysis with Pseudoacromegaly, Keratitis, and Oligodontia 54

Characteristics:

Orphanet epidemiological data:

60
dermatoosteolysis, kirghizian type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

33
dermatoosteolysis, kirghizian type:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Dermatoosteolysis, Kirghizian Type

NIH Rare Diseases : 54 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

Human phenotypes related to Dermatoosteolysis, Kirghizian Type:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002758
2 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
3 fever 60 33 hallmark (90%) Very frequent (99-80%) HP:0001945
4 arthralgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002829
5 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
6 skin ulcer 60 33 hallmark (90%) Very frequent (99-80%) HP:0200042
7 nyctalopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000662
8 keratitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000491
9 aplasia/hypoplasia of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008065
10 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
11 abnormality of the hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0001155
12 osteolysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002797
13 abnormal diaphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0000940
14 tarsal synostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008368
15 dystrophic toenail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001810
16 dystrophic fingernails 60 33 hallmark (90%) Very frequent (99-80%) HP:0008391
17 abnormality of the wrist 60 33 hallmark (90%) Very frequent (99-80%) HP:0003019
18 oligodontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000677
19 abnormality of the dentition 60 Occasional (29-5%)
20 blindness 33 HP:0000618
21 flexion contracture 33 HP:0001371
22 abnormality of the nail 60 Frequent (79-30%)
23 nail dystrophy 33 HP:0008404
24 abnormality of the foot 60 Very frequent (99-80%)
25 split hand 33 HP:0001171
26 nail dysplasia 33 HP:0002164
27 broad foot 33 HP:0001769
28 ankle swelling 33 HP:0001785
29 joint contracture of the hand 33 HP:0009473

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
visual impairment
blindness
keratitis

Skeletal Feet:
ankle swelling
broad feet

Metabolic Features:
recurrent fevers

Skeletal Spine:
secondary scoliosis

Skeletal Hands:
claw hands
flexion contractures (fingers)

Head And Neck Teeth:
oligodontia

Skin Nails Hair Nails:
dystrophic nails

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)

Clinical features from OMIM:

221810

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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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