MCID: FRG013
MIFTS: 13

Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

Categories: Rare diseases

Aliases & Classifications for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

MalaCards integrated aliases for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1):

Name: Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1) 57
Fragile Site 16q22 57
Fra16b 57

Classifications:



External Ids:

OMIM 57 136580
MedGen 42 C3890175
SNOMED-CT via HPO 69 15296000 8619003 17369002

Summaries for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

OMIM : 57 FRA16B is an amplified 33-basepair AT-rich minisatellite repeat. These variable, extremely large repeat expansions of 15 to 70 kb apparently do not interfere with the expression of genes essential for human development since individuals heterozygous or homozygous for FRA16B are normal. Normal chromosomes contain 7 to 12 copies of the repeat (Yu et al., 1997; summary by Felbor et al., 2003). (136580)

MalaCards based summary : Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1), also known as fragile site 16q22, is related to cleft palate, isolated. An important gene associated with Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1) is FRA16B (Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)). Affiliated tissues include lymph node, and related phenotypes are infertility and abnormality of the lymph nodes

Related Diseases for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

Diseases related to Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1) via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 10.0

Symptoms & Phenotypes for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

Clinical features from OMIM:

136580

Human phenotypes related to Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1):

32
# Description HPO Frequency HPO Source Accession
1 infertility 32 HP:0000789
2 abnormality of the lymph nodes 32 HP:0002733
3 abnormality of chromosome segregation 32 HP:0002916
4 spontaneous abortion 32 HP:0005268

Drugs & Therapeutics for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

Search Clinical Trials , NIH Clinical Center for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

Genetic Tests for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

Anatomical Context for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

MalaCards organs/tissues related to Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1):

41
Lymph Node

Publications for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

Variations for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

Expression for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

Search GEO for disease gene expression data for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1).

Pathways for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

GO Terms for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

Sources for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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33 ICD10
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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72 Tocris
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74 UMLS via Orphanet
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