MCID: RRD053
MIFTS: 13

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 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

MESH via Orphanet 44 D006983
UMLS via Orphanet 72 C0020555
Orphanet 58 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, and related phenotype is skeleton.

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:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 hypertrichosis 8.8 NAGLU ASXL1 ARID1B

Symptoms & Phenotypes for Rare Disorder with Hypertrichosis

MGI Mouse Phenotypes related to Rare Disorder with Hypertrichosis:

45 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 8.8 ARID1B ASXL1 NAGLU

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:

40
Skin

Publications for Rare Disorder with Hypertrichosis

Variations for Rare Disorder with Hypertrichosis

ClinVar genetic disease variations for Rare Disorder with Hypertrichosis:

6 (showing 7, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARID1B NM_020732.3(ARID1B):c.1612C>T (p.Gln538Ter)SNV Pathogenic 374179 rs1057518951 6:157150430-157150430 6:156829296-156829296
2 NAGLU NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)deletion Pathogenic 1564 rs483352897 17:40689535-40689544 17:42537517-42537526
3 ASXL1 NM_015338.5(ASXL1):c.1210C>T (p.Arg404Ter)SNV Pathogenic 30986 rs373145711 20:31021211-31021211 20:32433408-32433408
4 NAGLU NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)SNV Pathogenic/Likely pathogenic 371634 rs753520553 17:40689451-40689451 17:42537433-42537433
5 ARID1B NM_017519.2(ARID1B):c.3406del (p.Leu1136fs)deletion Likely pathogenic 374133 rs1057518918 6:157505463-157505463 6:157184329-157184329
6 KCNJ11 NM_000525.3(KCNJ11):c.185C>G (p.Thr62Arg)SNV Likely pathogenic 373928 rs1057518775 11:17409454-17409454 11:17387907-17387907
7 ARID1B , TMEM242 , ZDHHC14 GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3copy number gain Uncertain significance 523303 6:156772218-157870875

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:

(showing 2, show less)
# 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:

(showing 1, show less)
# 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 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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