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 58
Acanthosis Nigricans Muscle Cramps Acral Enlargement 54 74
Familial Insulin Resistance with Acanthosis Nigricans, Acral Hypertrophy and Muscle Cramps 54
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
acanthosis nigricans with muscle cramps and acral enlargement:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 200170
Orphanet 60 ORPHA90301
MedGen 43 C1860215
UMLS 74 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 diabetes mellitus, noninsulin-dependent, and has symptoms including muscle cramp Affiliated tissues include ovary, skin and kidney, and related phenotypes are acanthosis nigricans and growth hormone excess

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
2 diabetes mellitus, noninsulin-dependent 10.5

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

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

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 acanthosis nigricans 60 33 hallmark (90%) Very frequent (99-80%) HP:0000956
2 growth hormone excess 60 33 hallmark (90%) Very frequent (99-80%) HP:0000845
3 enlarged polycystic ovaries 60 33 hallmark (90%) Very frequent (99-80%) HP:0008675
4 insulin-resistant diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000831
5 hirsutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0001007
6 muscle spasm 33 hallmark (90%) HP:0003394
7 enlarged kidney 60 33 frequent (33%) Frequent (79-30%) HP:0000105
8 insulin resistance 60 33 Very frequent (99-80%) HP:0000855
9 muscle cramps 60 Very frequent (99-80%)
10 polycystic ovaries 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Skin:
acanthosis nigricans

Endo:
insulin resistance

Neuro:
muscle cramps

Clinical features from OMIM:

200170

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:

42
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 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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