MCID: DWR023
MIFTS: 13

Dwarfism, Familial, with Muscle Spasms

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Dwarfism, Familial, with Muscle Spasms

MalaCards integrated aliases for Dwarfism, Familial, with Muscle Spasms:

Name: Dwarfism, Familial, with Muscle Spasms 56
Familial Dwarfism and Painful Muscle Spasms 52
Dwarfism Familial with Muscle Spasms 52

Characteristics:

OMIM:

56
Inheritance:
autosomal vs. x-linked recessive


HPO:

31
dwarfism, familial, with muscle spasms:
Inheritance autosomal recessive inheritance x-linked recessive inheritance


Classifications:



Summaries for Dwarfism, Familial, with Muscle Spasms

MalaCards based summary : Dwarfism, Familial, with Muscle Spasms, also known as familial dwarfism and painful muscle spasms, is related to dwarfism. Affiliated tissues include eye, and related phenotypes are macrotia and low-set ears

More information from OMIM: 600771

Related Diseases for Dwarfism, Familial, with Muscle Spasms

Diseases related to Dwarfism, Familial, with Muscle Spasms via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dwarfism 10.1

Symptoms & Phenotypes for Dwarfism, Familial, with Muscle Spasms

Human phenotypes related to Dwarfism, Familial, with Muscle Spasms:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 macrotia 31 HP:0000400
2 low-set ears 31 HP:0000369
3 sparse scalp hair 31 HP:0002209
4 fine hair 31 HP:0002213
5 proptosis 31 HP:0000520
6 severe short stature 31 HP:0003510
7 large beaked nose 31 HP:0003683
8 intermittent painful muscle spasms 31 HP:0011964
9 brittle scalp hair 31 HP:0004779

Symptoms via clinical synopsis from OMIM:

56
Growth:
short stature

Neuro:
normal intelligence

Ears:
large, low-implanted ears

Hair:
fragile, thin, and sparse scalp hair
no body hair

Nose:
large beaked nose

Muscle:
intermittent painful trunk and limb muscle contractions

Eyes:
slightly prominent eyes

Misc:
onset age 8 to 10 years

Clinical features from OMIM:

600771

Drugs & Therapeutics for Dwarfism, Familial, with Muscle Spasms

Search Clinical Trials , NIH Clinical Center for Dwarfism, Familial, with Muscle Spasms

Genetic Tests for Dwarfism, Familial, with Muscle Spasms

Anatomical Context for Dwarfism, Familial, with Muscle Spasms

MalaCards organs/tissues related to Dwarfism, Familial, with Muscle Spasms:

40
Eye

Publications for Dwarfism, Familial, with Muscle Spasms

Articles related to Dwarfism, Familial, with Muscle Spasms:

# Title Authors PMID Year
1
Familial dwarfism and painful muscle spasms. 56 61
7565047 1995

Variations for Dwarfism, Familial, with Muscle Spasms

Expression for Dwarfism, Familial, with Muscle Spasms

Search GEO for disease gene expression data for Dwarfism, Familial, with Muscle Spasms.

Pathways for Dwarfism, Familial, with Muscle Spasms

GO Terms for Dwarfism, Familial, with Muscle Spasms

Sources for Dwarfism, Familial, with Muscle Spasms

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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