MCID: DRM019
MIFTS: 16

Dermatoleukodystrophy

Categories: Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Dermatoleukodystrophy

MalaCards integrated aliases for Dermatoleukodystrophy:

Name: Dermatoleukodystrophy 58 54 60 74

Characteristics:

Orphanet epidemiological data:

60
dermatoleukodystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
dermatoleukodystrophy:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 221790
MESH via Orphanet 46 C538220
ICD10 via Orphanet 35 E75.2
UMLS via Orphanet 75 C1857314
Orphanet 60 ORPHA1659
MedGen 43 C1857314
UMLS 74 C1857314

Summaries for Dermatoleukodystrophy

MalaCards based summary : Dermatoleukodystrophy Affiliated tissues include skin, and related phenotypes are intellectual disability and hyperkeratosis

Description from OMIM: 221790

Related Diseases for Dermatoleukodystrophy

Symptoms & Phenotypes for Dermatoleukodystrophy

Human phenotypes related to Dermatoleukodystrophy:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 hyperkeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000962
3 abnormality of nervous system morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0012639
4 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
5 reduced tendon reflexes 60 33 frequent (33%) Frequent (79-30%) HP:0001315
6 thickened skin 60 33 Very frequent (99-80%) HP:0001072
7 macrotia 33 HP:0000400
8 abnormality of metabolism/homeostasis 33 HP:0001939
9 large hands 33 HP:0001176
10 prominent nose 33 HP:0000448
11 leukodystrophy 33 HP:0002415
12 progeroid facial appearance 33 HP:0005328
13 long foot 33 HP:0001833
14 premature skin wrinkling 33 HP:0100678

Symptoms via clinical synopsis from OMIM:

58
Neuro:
mental retardation
progressive cerebral disease
motor impairment

Skin:
thickened wrinkled skin
skin sclerosis
creased skin

Lab:
leukodystrophy with multiple axonal, oligodendrocytic and schwann cell spheroids containing granules like ceroid-lipofuscin bodies
skin hypercellularity

H E E N T:
large ears
large nose
aged facial appearance

Skel:
large hands and feet

Clinical features from OMIM:

221790

Drugs & Therapeutics for Dermatoleukodystrophy

Search Clinical Trials , NIH Clinical Center for Dermatoleukodystrophy

Genetic Tests for Dermatoleukodystrophy

Anatomical Context for Dermatoleukodystrophy

MalaCards organs/tissues related to Dermatoleukodystrophy:

42
Skin

Publications for Dermatoleukodystrophy

Articles related to Dermatoleukodystrophy:

# Title Authors Year
1
Dermatoleukodystrophy with neuroaxonal spheroids. ( 655904 )
1978

Variations for Dermatoleukodystrophy

Expression for Dermatoleukodystrophy

Search GEO for disease gene expression data for Dermatoleukodystrophy.

Pathways for Dermatoleukodystrophy

GO Terms for Dermatoleukodystrophy

Sources for Dermatoleukodystrophy

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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