MCID: RRD053
MIFTS: 12

Rare Disorder with Hypertrichosis

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Rare Disorder with Hypertrichosis

MalaCards integrated aliases for Rare Disorder with Hypertrichosis:

Name: Rare Disorder with Hypertrichosis 59

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

MESH via Orphanet 45 D006983
UMLS via Orphanet 73 C0020555
Orphanet 59 ORPHA79365

Summaries for Rare Disorder with Hypertrichosis

MalaCards based summary : Rare Disorder with Hypertrichosis is related to hypertrichosis. An important gene associated with Rare Disorder with Hypertrichosis is ARID1B (AT-Rich Interaction Domain 1B). Affiliated tissues include skin.

Related Diseases for Rare Disorder with Hypertrichosis

Diseases in the Hypertrichosis family:

Rare Disorder with Hypertrichosis

Diseases related to Rare Disorder with Hypertrichosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypertrichosis 8.9 NAGLU ASXL1 ARID1B

Symptoms & Phenotypes for Rare Disorder with Hypertrichosis

Drugs & Therapeutics for Rare Disorder with Hypertrichosis

Search Clinical Trials , NIH Clinical Center for Rare Disorder with Hypertrichosis

Genetic Tests for Rare Disorder with Hypertrichosis

Anatomical Context for Rare Disorder with Hypertrichosis

MalaCards organs/tissues related to Rare Disorder with Hypertrichosis:

41
Skin

Publications for Rare Disorder with Hypertrichosis

Variations for Rare Disorder with Hypertrichosis

ClinVar genetic disease variations for Rare Disorder with Hypertrichosis:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ARID1B NM_020732.3(ARID1B): c.1612C> T (p.Gln538Ter) single nucleotide variant Pathogenic rs1057518951 6:157150430-157150430 6:156829296-156829296
2 NAGLU NM_000263.4(NAGLU): c.507_516del (p.Ser169fs) deletion Pathogenic rs483352897 17:40689535-40689544 17:42537517-42537526
3 ASXL1 NM_015338.5(ASXL1): c.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs373145711 20:31021211-31021211 20:32433408-32433408
4 NAGLU NM_000263.4(NAGLU): c.419A> G (p.Tyr140Cys) single nucleotide variant Pathogenic/Likely pathogenic rs753520553 17:40689451-40689451 17:42537433-42537433
5 ARID1B NM_020732.3(ARID1B): c.3445del (p.Leu1149fs) deletion Likely pathogenic rs1057518918 6:157505463-157505463 6:157184329-157184329
6 KCNJ11 NM_000525.3(KCNJ11): c.185C> G (p.Thr62Arg) single nucleotide variant Likely pathogenic rs1057518775 11:17409454-17409454 11:17387907-17387907
7 ARID1B ; TMEM242 ; ZDHHC14 GRCh37/hg19 6q25.3(chr6: 156772218-157870875)x3 copy number gain Uncertain significance 6:156772218-157870875 :0-0

Expression for Rare Disorder with Hypertrichosis

Search GEO for disease gene expression data for Rare Disorder with Hypertrichosis.

Pathways for Rare Disorder with Hypertrichosis

GO Terms for Rare Disorder with Hypertrichosis

Biological processes related to Rare Disorder with Hypertrichosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 8.96 NAGLU ARID1B
2 chromatin organization GO:0006325 8.62 ASXL1 ARID1B

Molecular functions related to Rare Disorder with Hypertrichosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription coactivator activity GO:0003713 8.62 ASXL1 ARID1B

Sources for Rare Disorder with Hypertrichosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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