MCID: DRM019
MIFTS: 16

Dermatoleukodystrophy

Categories: Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Dermatoleukodystrophy

MalaCards integrated aliases for Dermatoleukodystrophy:

Name: Dermatoleukodystrophy 57 53 59 73

Characteristics:

Orphanet epidemiological data:

59
dermatoleukodystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
dermatoleukodystrophy:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 221790
Orphanet 59 ORPHA1659
MESH via Orphanet 45 C538220
UMLS via Orphanet 74 C1857314
ICD10 via Orphanet 34 E75.2
MedGen 42 C1857314
UMLS 73 C1857314

Summaries for Dermatoleukodystrophy

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

Description from OMIM: 221790

Related Diseases for Dermatoleukodystrophy

Symptoms & Phenotypes for Dermatoleukodystrophy

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Dermatoleukodystrophy:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
3 hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000962
4 abnormality of nervous system morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0012639
5 reduced tendon reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001315
6 thickened skin 59 32 Very frequent (99-80%) HP:0001072
7 macrotia 32 HP:0000400
8 abnormality of metabolism/homeostasis 32 HP:0001939
9 large hands 32 HP:0001176
10 prominent nose 32 HP:0000448
11 leukodystrophy 32 HP:0002415
12 progeroid facial appearance 32 HP:0005328
13 long foot 32 HP:0001833
14 premature skin wrinkling 32 HP:0100678

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:

41
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 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....