LKMCD
MCID: LKN009
MIFTS: 17

Leukoencephalopathy with Metaphyseal Chondrodysplasia (LKMCD)

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 58 13 74
Leukoencephalopathy-Metaphyseal Chondrodysplasia Syndrome 60
Lkmcd 58

Characteristics:

Orphanet epidemiological data:

60
leukoencephalopathy-metaphyseal chondrodysplasia syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Miscellaneous:
slowly progressive
onset in early childhood

Inheritance:
x-linked recessive


HPO:

33
leukoencephalopathy with metaphyseal chondrodysplasia:
Onset and clinical course slow progression juvenile onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 60  
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 metaphyseal chondrodysplasia and leukoencephalopathy

Description from OMIM: 300660

Related Diseases for Leukoencephalopathy with Metaphyseal Chondrodysplasia

Symptoms & Phenotypes for Leukoencephalopathy with Metaphyseal Chondrodysplasia

Human phenotypes related to Leukoencephalopathy with Metaphyseal Chondrodysplasia:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 metaphyseal chondrodysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005871
2 leukoencephalopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002352
3 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
4 tremor 60 33 frequent (33%) Frequent (79-30%) HP:0001337
5 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
6 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505
7 reduced bone mineral density 60 33 frequent (33%) Frequent (79-30%) HP:0004349
8 babinski sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487
9 toe walking 60 33 frequent (33%) Frequent (79-30%) HP:0040083
10 spastic paraplegia 60 33 frequent (33%) Frequent (79-30%) HP:0001258
11 hypoplasia of the corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0002079
12 cerebral atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002059
13 abnormality of the optic nerve 60 33 frequent (33%) Frequent (79-30%) HP:0000587
14 enlargement of the wrists 60 33 frequent (33%) Frequent (79-30%) HP:0003020
15 abnormal brainstem mri signal intensity 60 33 frequent (33%) Frequent (79-30%) HP:0012747
16 morphological abnormality of the pyramidal tract 60 33 frequent (33%) Frequent (79-30%) HP:0002062
17 large knee 60 33 frequent (33%) Frequent (79-30%) HP:0030866
18 abnormality of the astrocytes 60 33 frequent (33%) Frequent (79-30%) HP:0100707
19 depressed nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0005280
20 anteverted nares 60 33 occasional (7.5%) Occasional (29-5%) HP:0000463
21 midface retrusion 60 33 occasional (7.5%) Occasional (29-5%) HP:0011800
22 horizontal nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000666
23 gait disturbance 60 33 Frequent (79-30%) HP:0001288
24 malar flattening 33 HP:0000272
25 visual loss 33 HP:0000572
26 abnormality of the cerebral white matter 33 HP:0002500
27 diffuse cerebral atrophy 33 HP:0002506

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hyperreflexia
spastic paraplegia
leukoencephalopathy
diffuse cerebral atrophy
fine tremor
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

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:

42
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 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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