MCID: LKN009
MIFTS: 18

Leukoencephalopathy with Metaphyseal Chondrodysplasia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Leukoencephalopathy with Metaphyseal Chondrodysplasia

MalaCards integrated aliases for Leukoencephalopathy with Metaphyseal Chondrodysplasia:

Name: Leukoencephalopathy with Metaphyseal Chondrodysplasia 57 13 73
Leukoencephalopathy-Metaphyseal Chondrodysplasia Syndrome 59
Lkmcd 57

Characteristics:

Orphanet epidemiological data:

59
leukoencephalopathy-metaphyseal chondrodysplasia syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Miscellaneous:
slowly progressive
onset in early childhood

Inheritance:
x-linked recessive


HPO:

32
leukoencephalopathy with metaphyseal chondrodysplasia:
Onset and clinical course slow progression juvenile onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Leukoencephalopathy with Metaphyseal Chondrodysplasia

MalaCards based summary : Leukoencephalopathy with Metaphyseal Chondrodysplasia, is also known as leukoencephalopathy-metaphyseal chondrodysplasia syndrome, and has symptoms including fine tremor and unspecified visual loss. An important gene associated with Leukoencephalopathy with Metaphyseal Chondrodysplasia is LKMCD (Leukoencephalopathy With Metaphyseal Chondrodysplasia). Affiliated tissues include bone, and related phenotypes are leukoencephalopathy and metaphyseal chondrodysplasia

Description from OMIM: 300660

Related Diseases for Leukoencephalopathy with Metaphyseal Chondrodysplasia

Symptoms & Phenotypes for Leukoencephalopathy with Metaphyseal Chondrodysplasia

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
spastic paraplegia
diffuse cerebral atrophy
leukoencephalopathy
mental retardation
more
Skeletal Limbs:
metaphyseal chondrodysplasia
broad knees
broad wrists

Head And Neck Face:
mild midface hypoplasia

Head And Neck Nose:
anteverted nares
low nasal bridge

Head And Neck Eyes:
horizontal nystagmus
loss of vision

Skeletal:
decreased bone mineralization


Clinical features from OMIM:

300660

Human phenotypes related to Leukoencephalopathy with Metaphyseal Chondrodysplasia:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 leukoencephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002352
2 metaphyseal chondrodysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005871
3 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
4 abnormality of the optic nerve 59 32 frequent (33%) Frequent (79-30%) HP:0000587
5 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
6 spastic paraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0001258
7 gait disturbance 59 32 Frequent (79-30%) HP:0001288
8 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
9 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
10 cerebral atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002059
11 morphological abnormality of the pyramidal tract 59 32 frequent (33%) Frequent (79-30%) HP:0002062
12 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079
13 enlargement of the wrists 59 32 frequent (33%) Frequent (79-30%) HP:0003020
14 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
15 reduced bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0004349
16 abnormal brainstem mri signal intensity 59 32 frequent (33%) Frequent (79-30%) HP:0012747
17 large knee 59 32 frequent (33%) Frequent (79-30%) HP:0030866
18 toe walking 59 32 frequent (33%) Frequent (79-30%) HP:0040083
19 abnormality of the astrocytes 59 32 frequent (33%) Frequent (79-30%) HP:0100707
20 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
21 horizontal nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000666
22 depressed nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005280
23 midface retrusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0011800
24 malar flattening 32 HP:0000272
25 visual loss 32 HP:0000572
26 abnormality of the cerebral white matter 32 HP:0002500
27 diffuse cerebral atrophy 32 HP:0002506

UMLS symptoms related to Leukoencephalopathy with Metaphyseal Chondrodysplasia:


fine tremor, unspecified visual loss

Drugs & Therapeutics for Leukoencephalopathy with Metaphyseal Chondrodysplasia

Search Clinical Trials , NIH Clinical Center for Leukoencephalopathy with Metaphyseal Chondrodysplasia

Genetic Tests for Leukoencephalopathy with Metaphyseal Chondrodysplasia

Anatomical Context for Leukoencephalopathy with Metaphyseal Chondrodysplasia

MalaCards organs/tissues related to Leukoencephalopathy with Metaphyseal Chondrodysplasia:

41
Bone

Publications for Leukoencephalopathy with Metaphyseal Chondrodysplasia

Articles related to Leukoencephalopathy with Metaphyseal Chondrodysplasia:

# Title Authors Year
1
A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27. ( 16924009 )
2006

Variations for Leukoencephalopathy with Metaphyseal Chondrodysplasia

Expression for Leukoencephalopathy with Metaphyseal Chondrodysplasia

Search GEO for disease gene expression data for Leukoencephalopathy with Metaphyseal Chondrodysplasia.

Pathways for Leukoencephalopathy with Metaphyseal Chondrodysplasia

GO Terms for Leukoencephalopathy with Metaphyseal Chondrodysplasia

Sources for Leukoencephalopathy with Metaphyseal Chondrodysplasia

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
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