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 57
Congenital Aplasia of the Extensor Muscles of the Fingers and Thumb Associated with Generalized Polyneuropathy 59
Digital Extensor Muscle Aplasia-Polyneuropathy 59
Polyneuropathy-Hand Defect Syndrome 59
Hamanishi Ueba Tsuji Syndrome 73
Hamanishi-Ueba-Tsuji Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 207740
Orphanet 59 ORPHA2926
UMLS via Orphanet 74 C2930955
ICD10 via Orphanet 34 Q87.8
MedGen 42 C1859752
UMLS 73 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 hypohidrosis

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...

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
2 hypohidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000966
3 impaired pain sensation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007328
4 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
5 muscular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003560
6 abnormal nerve conduction velocity 59 32 hallmark (90%) Very frequent (99-80%) HP:0040129
7 aplasia/hypoplasia involving the skeletal musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0001460
8 heat intolerance 59 32 frequent (33%) Frequent (79-30%) HP:0002046
9 abnormality of temperature regulation 59 Frequent (79-30%)
10 abnormality of the musculature 32 HP:0003011
11 polyneuropathy 32 HP:0001271

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:

41
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 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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