MCID: LMB066
MIFTS: 17

Limb Defects, Distal Transverse, with Mental Retardation and Spasticity

Categories: Bone diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Limb Defects, Distal Transverse, with Mental Retardation and...

MalaCards integrated aliases for Limb Defects, Distal Transverse, with Mental Retardation and Spasticity:

Name: Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 56
Intellectual Disability-Spasticity-Ectrodactyly Syndrome 58
Mental Retardation Spasticity Ectrodactyly 71
Jancar Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
intellectual disability-spasticity-ectrodactyly syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
limb defects, distal transverse, with mental retardation and spasticity:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 246555
UMLS via Orphanet 72 C0796001
Orphanet 58 ORPHA1891
MedGen 41 C1855501
UMLS 71 C0796001

Summaries for Limb Defects, Distal Transverse, with Mental Retardation and...

MalaCards based summary : Limb Defects, Distal Transverse, with Mental Retardation and Spasticity, also known as intellectual disability-spasticity-ectrodactyly syndrome, is related to intellectual disability-spasticity-ectrodactyly syndrome and spasticity. Affiliated tissues include bone, and related phenotypes are intellectual disability and spastic paraplegia

More information from OMIM: 246555

Related Diseases for Limb Defects, Distal Transverse, with Mental Retardation and...

Diseases related to Limb Defects, Distal Transverse, with Mental Retardation and Spasticity via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 intellectual disability-spasticity-ectrodactyly syndrome 12.9
2 spasticity 10.2

Symptoms & Phenotypes for Limb Defects, Distal Transverse, with Mental Retardation and...

Human phenotypes related to Limb Defects, Distal Transverse, with Mental Retardation and Spasticity:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
2 spastic paraplegia 58 31 Frequent (79-30%) HP:0001258
3 finger syndactyly 58 Frequent (79-30%)
4 spasticity 58 Very frequent (99-80%)
5 hyperreflexia 58 Frequent (79-30%)
6 abnormality of the hip bone 58 Frequent (79-30%)
7 clinodactyly of the 5th finger 58 Frequent (79-30%)
8 bilateral single transverse palmar creases 58 Frequent (79-30%)
9 split hand 31 HP:0001171
10 abnormality of the upper limb 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Neuro:
spastic paraplegia
mental retardation

Limbs:
ectrodactyly

Clinical features from OMIM:

246555

Drugs & Therapeutics for Limb Defects, Distal Transverse, with Mental Retardation and...

Search Clinical Trials , NIH Clinical Center for Limb Defects, Distal Transverse, with Mental Retardation and Spasticity

Genetic Tests for Limb Defects, Distal Transverse, with Mental Retardation and...

Anatomical Context for Limb Defects, Distal Transverse, with Mental Retardation and...

MalaCards organs/tissues related to Limb Defects, Distal Transverse, with Mental Retardation and Spasticity:

40
Bone

Publications for Limb Defects, Distal Transverse, with Mental Retardation and...

Articles related to Limb Defects, Distal Transverse, with Mental Retardation and Spasticity:

# Title Authors PMID Year
1
Jancar syndrome: mental retardation, spasticity, and distal transverse limbs defects. 61 56
8368260 1993
2
Mental retardation, spasticity, and transverse limb defects. 56
3812566 1987
3
Ectrodactyly, spastic paraplegia and mental retardation. 56
6056808 1967

Variations for Limb Defects, Distal Transverse, with Mental Retardation and...

Expression for Limb Defects, Distal Transverse, with Mental Retardation and...

Search GEO for disease gene expression data for Limb Defects, Distal Transverse, with Mental Retardation and Spasticity.

Pathways for Limb Defects, Distal Transverse, with Mental Retardation and...

GO Terms for Limb Defects, Distal Transverse, with Mental Retardation and...

Sources for Limb Defects, Distal Transverse, with Mental Retardation and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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