SEMDHL
MCID: SPN438
MIFTS: 25

Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy (SEMDHL)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:

Name: Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy 56
Leukoencephalopathy with Metaphyseal Chondrodysplasia; Lkmcd; Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 56
Leukoencephalopathy with Metaphyseal Chondrodysplasia 56
Semd, X-Linked, with Mental Deterioration 56
Semdhl 56
Lkmcd 56

Characteristics:

OMIM:

56
Miscellaneous:
slowly progressive
onset in early childhood
normal development in first 6-12 months
death from respiratory failure often occurs

Inheritance:
x-linked recessive


HPO:

31
spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

OMIM : 56 X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) is an X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy (summary by Miyake et al., 2017). (300232)

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy, also known as leukoencephalopathy with metaphyseal chondrodysplasia; lkmcd; spondyloepimetaphyseal dysplasia, x-linked, with mental deterioration, is related to spondyloepimetaphyseal dysplasia x-linked with mental deterioration and 3-methylglutaconic aciduria, type iii. An important gene associated with Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1). Affiliated tissues include brain and bone, and related phenotypes are malar flattening and hypertelorism

Related Diseases for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

Diseases related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia x-linked with mental deterioration 11.7
2 3-methylglutaconic aciduria, type iii 10.2
3 ataxia and polyneuropathy, adult-onset 10.2
4 paraplegia 10.2
5 tremor 10.2

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:



Diseases related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:

31 (show all 41)
# Description HPO Frequency HPO Source Accession
1 malar flattening 31 HP:0000272
2 hypertelorism 31 HP:0000316
3 low-set ears 31 HP:0000369
4 short neck 31 HP:0000470
5 high palate 31 HP:0000218
6 seizures 31 HP:0001250
7 coarse facial features 31 HP:0000280
8 delayed skeletal maturation 31 HP:0002750
9 depressed nasal bridge 31 HP:0005280
10 brachydactyly 31 HP:0001156
11 short stature 31 HP:0004322
12 thick eyebrow 31 HP:0000574
13 flexion contracture 31 HP:0001371
14 midface retrusion 31 HP:0011800
15 broad nasal tip 31 HP:0000455
16 platyspondyly 31 HP:0000926
17 wormian bones 31 HP:0002645
18 intellectual disability, progressive 31 HP:0006887
19 thin ribs 31 HP:0000883
20 metaphyseal cupping of metacarpals 31 HP:0006028
21 flattened epiphysis 31 HP:0003071
22 low anterior hairline 31 HP:0000294
23 thoracic kyphosis 31 HP:0002942
24 hypoplasia of the corpus callosum 31 HP:0002079
25 optic disc pallor 31 HP:0000543
26 coxa vara 31 HP:0002812
27 short finger 31 HP:0009381
28 broad foot 31 HP:0001769
29 broad palm 31 HP:0001169
30 hypoplasia of the odontoid process 31 HP:0003311
31 prominent sternum 31 HP:0000884
32 flared iliac wings 31 HP:0002869
33 small epiphyses 31 HP:0010585
34 anterior rib cupping 31 HP:0000907
35 short femoral neck 31 HP:0100864
36 metaphyseal widening 31 HP:0003016
37 delayed cns myelination 31 HP:0002188
38 widened subarachnoid space 31 HP:0012704
39 spondyloepimetaphyseal dysplasia 31 HP:0002651
40 peg-like central prominence of distal tibial metaphyses 31 HP:0006423
41 cone-shaped capital femoral epiphysis 31 HP:0008789

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
nystagmus
optic atrophy
pale optic discs
loss of vision
more
Head And Neck Neck:
short neck

Skeletal:
osteopenia
metaphyseal chondrodysplasia
enlarged joints
spondyloepimetaphyseal dysplasia
delayed bone age
more
Respiratory:
respiratory insufficiency
tracheostomy
mechanical ventilation

Head And Neck Nose:
depressed nasal bridge
anteverted nares
broad nasal tip

Skeletal Feet:
brachydactyly
large, broad feet

Muscle Soft Tissue:
hypertonia
hypotonia
muscle atrophy

Skeletal Pelvis:
coxa vara
flared iliac wings
short, hypoplastic femoral necks
cone-shaped capital femoral epiphyses
flat acetabula
more
Head And Neck Face:
midface hypoplasia
low frontal hairline
coarse facies
long smooth philtrum

Head And Neck Mouth:
high-arched palate

Head And Neck Ears:
low-set ears
hearing impairment (in some patients)

Skeletal Hands:
clinodactyly
brachydactyly
small hands
coned epiphyses
large, broad hands
more
Neurologic Central Nervous System:
ataxia
dysarthria
hyperreflexia
developmental regression
poor speech
more
Skeletal Spine:
scoliosis
platyspondyly
vertebral body abnormalities
odontoid hypoplasia
exaggerated thoracic kyphosis

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
narrow chest
thin ribs
prominent sternum
short ribs
more
Growth Height:
short stature

Skeletal Skull:
wormian bones

Skeletal Limbs:
peg-like central prominence of distal tibial metaphyses
widened metaphyses
small flattened epiphyses (distal femora and proximal tibiae)
epiphyseal sclerosis
broad knees
more
Skin Nails Hair Hair:
low frontal hairline
prominent eyebrows

Growth Other:
poor overall growth

Clinical features from OMIM:

300232

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy

Genetic Tests for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

Anatomical Context for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:

40
Brain, Bone

Publications for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

Articles related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:

# Title Authors PMID Year
1
A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27. 61 6 56
16924009 2006
2
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. 6 56
28842795 2017
3
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. 6 56
27102849 2017
4
A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia. 6 56
23239615 2013
5
Spondylo-epimetaphyseal dysplasia: a new X-linked variant with mental retardation. 6 56
10486082 1999

Variations for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AIFM1 NM_004208.4(AIFM1):c.705G>C (p.Gln235His)SNV Pathogenic 694667 X:129274584-129274584 X:130140609-130140609
2 AIFM1 NM_004208.4(AIFM1):c.697-44T>GSNV Pathogenic 694668 X:129274636-129274636 X:130140661-130140661
3 AIFM1 NM_004208.4(AIFM1):c.710A>G (p.Asp237Gly)SNV Pathogenic 694665 X:129274579-129274579 X:130140604-130140604
4 AIFM1 NM_004208.4(AIFM1):c.720C>T (p.Asp240=)SNV Uncertain significance 598756 rs1569418673 X:129274569-129274569 X:130140594-130140594

Expression for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy.

Pathways for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

GO Terms for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

Sources for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

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57 OMIM via Orphanet
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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