MCID: ACN028
MIFTS: 19

Acanthosis Nigricans with Muscle Cramps and Acral Enlargement

Categories: Endocrine diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Acanthosis Nigricans with Muscle Cramps and Acral Enlargement

MalaCards integrated aliases for Acanthosis Nigricans with Muscle Cramps and Acral Enlargement:

Name: Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 57
Acanthosis Nigricans Muscle Cramps Acral Enlargement 53 73
Familial Insulin Resistance with Acanthosis Nigricans, Acral Hypertrophy and Muscle Cramps 53
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
acanthosis nigricans with muscle cramps and acral enlargement:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 200170
Orphanet 59 ORPHA90301
MedGen 42 C1860215
UMLS 73 C1860215

Summaries for Acanthosis Nigricans with Muscle Cramps and Acral Enlargement

MalaCards based summary : Acanthosis Nigricans with Muscle Cramps and Acral Enlargement, also known as acanthosis nigricans muscle cramps acral enlargement, is related to acanthosis nigricans, and has symptoms including muscle cramp Affiliated tissues include ovary, skin and kidney, and related phenotypes are acanthosis nigricans and muscle cramps

Description from OMIM: 200170

Related Diseases for Acanthosis Nigricans with Muscle Cramps and Acral Enlargement

Diseases related to Acanthosis Nigricans with Muscle Cramps and Acral Enlargement via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acanthosis nigricans 10.5

Symptoms & Phenotypes for Acanthosis Nigricans with Muscle Cramps and Acral Enlargement

Symptoms via clinical synopsis from OMIM:

57
Skin:
acanthosis nigricans

Endo:
insulin resistance

Neuro:
muscle cramps


Clinical features from OMIM:

200170

Human phenotypes related to Acanthosis Nigricans with Muscle Cramps and Acral Enlargement:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 acanthosis nigricans 59 32 hallmark (90%) Very frequent (99-80%) HP:0000956
2 muscle cramps 59 32 hallmark (90%) Very frequent (99-80%) HP:0003394
3 growth hormone excess 59 32 hallmark (90%) Very frequent (99-80%) HP:0000845
4 enlarged polycystic ovaries 59 32 hallmark (90%) Very frequent (99-80%) HP:0008675
5 enlarged kidney 59 32 frequent (33%) Frequent (79-30%) HP:0000105
6 insulin-resistant diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000831
7 insulin resistance 59 32 Very frequent (99-80%) HP:0000855
8 hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001007
9 polycystic ovaries 59 Very frequent (99-80%)

UMLS symptoms related to Acanthosis Nigricans with Muscle Cramps and Acral Enlargement:


muscle cramp

Drugs & Therapeutics for Acanthosis Nigricans with Muscle Cramps and Acral Enlargement

Search Clinical Trials , NIH Clinical Center for Acanthosis Nigricans with Muscle Cramps and Acral Enlargement

Genetic Tests for Acanthosis Nigricans with Muscle Cramps and Acral Enlargement

Anatomical Context for Acanthosis Nigricans with Muscle Cramps and Acral Enlargement

MalaCards organs/tissues related to Acanthosis Nigricans with Muscle Cramps and Acral Enlargement:

41
Ovary, Skin, Kidney

Publications for Acanthosis Nigricans with Muscle Cramps and Acral Enlargement

Articles related to Acanthosis Nigricans with Muscle Cramps and Acral Enlargement:

# Title Authors Year
1
Familial insulin resistance with acanthosis nigricans, acral hypertrophy, and muscle cramps. ( 6997748 )
1980

Variations for Acanthosis Nigricans with Muscle Cramps and Acral Enlargement

Expression for Acanthosis Nigricans with Muscle Cramps and Acral Enlargement

Search GEO for disease gene expression data for Acanthosis Nigricans with Muscle Cramps and Acral Enlargement.

Pathways for Acanthosis Nigricans with Muscle Cramps and Acral Enlargement

GO Terms for Acanthosis Nigricans with Muscle Cramps and Acral Enlargement

Sources for Acanthosis Nigricans with Muscle Cramps and Acral Enlargement

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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