MCID: APL029
MIFTS: 18

Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Aplasia of Extensor Muscles of Fingers, Unilateral, with...

MalaCards integrated aliases for Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy:

Name: Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy 58
Congenital Aplasia of the Extensor Muscles of the Fingers and Thumb Associated with Generalized Polyneuropathy 60
Digital Extensor Muscle Aplasia-Polyneuropathy 60
Polyneuropathy-Hand Defect Syndrome 60
Hamanishi Ueba Tsuji Syndrome 74
Hamanishi-Ueba-Tsuji Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 207740
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C2930955
Orphanet 60 ORPHA2926
MedGen 43 C1859752
UMLS 74 C2930955

Summaries for Aplasia of Extensor Muscles of Fingers, Unilateral, with...

MalaCards based summary : Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy, also known as congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy, is related to hamanishi ueba tsuji syndrome and polyneuropathy. Affiliated tissues include skeletal muscle, and related phenotypes are skeletal muscle atrophy and impaired pain sensation

Description from OMIM: 207740

Related Diseases for Aplasia of Extensor Muscles of Fingers, Unilateral, with...

Diseases related to Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hamanishi ueba tsuji syndrome 12.2
2 polyneuropathy 10.4

Symptoms & Phenotypes for Aplasia of Extensor Muscles of Fingers, Unilateral, with...

Human phenotypes related to Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202
2 impaired pain sensation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007328
3 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
4 muscular dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003560
5 abnormal nerve conduction velocity 60 33 hallmark (90%) Very frequent (99-80%) HP:0040129
6 aplasia/hypoplasia involving the skeletal musculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0001460
7 hypohidrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000966
8 heat intolerance 60 33 frequent (33%) Frequent (79-30%) HP:0002046
9 abnormality of temperature regulation 60 Frequent (79-30%)
10 abnormality of the musculature 33 HP:0003011
11 polyneuropathy 33 HP:0001271

Symptoms via clinical synopsis from OMIM:

58
Neuro:
hypohidrosis
polyneuropathy, all limbs
hypesthesia

Muscle:
extensor finger muscles and tendons absent or hypoplastic

Limbs:
thumb and fingers, unilateral flexion deformities

Clinical features from OMIM:

207740

Drugs & Therapeutics for Aplasia of Extensor Muscles of Fingers, Unilateral, with...

Search Clinical Trials , NIH Clinical Center for Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy

Genetic Tests for Aplasia of Extensor Muscles of Fingers, Unilateral, with...

Anatomical Context for Aplasia of Extensor Muscles of Fingers, Unilateral, with...

MalaCards organs/tissues related to Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy:

42
Skeletal Muscle

Publications for Aplasia of Extensor Muscles of Fingers, Unilateral, with...

Articles related to Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy:

# Title Authors Year
1
Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy: an autosomal recessive trait. ( 3459358 )
1986

Variations for Aplasia of Extensor Muscles of Fingers, Unilateral, with...

Expression for Aplasia of Extensor Muscles of Fingers, Unilateral, with...

Search GEO for disease gene expression data for Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy.

Pathways for Aplasia of Extensor Muscles of Fingers, Unilateral, with...

GO Terms for Aplasia of Extensor Muscles of Fingers, Unilateral, with...

Sources for Aplasia of Extensor Muscles of Fingers, Unilateral, with...

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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