HPE13
MCID: HLP032
MIFTS: 12

Holoprosencephaly 13, X-Linked (HPE13)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Holoprosencephaly 13, X-Linked

MalaCards integrated aliases for Holoprosencephaly 13, X-Linked:

Name: Holoprosencephaly 13, X-Linked 56 6
Hpe13 56

Classifications:



External Ids:

OMIM 56 301043

Summaries for Holoprosencephaly 13, X-Linked

OMIM : 56 X-linked holoprosencephaly-13 (HPE13) is a neurologic disorder characterized by midline developmental defects that mainly affect the brain and craniofacial structure. The severity and manifestations are variable: some patients may have full alobar HPE with cyclopia, whereas other have semilobar HPE or septooptic dysplasia. Dysmorphic features include microcephaly, hypotelorism, low-set ears, micrognathia, and cleft lip/palate. Patients with a more severe phenotype may die in the newborn period, whereas those with a less severe phenotype show global developmental delay. Additional variable features include congenital heart defects and vertebral anomalies. Phenotypic variability may be related to the type of mutation, X-inactivation status, and possible incomplete penetrance. The STAG2 protein is part of the multiprotein cohesin complex involved in chromatid cohesion during DNA replication and transcriptional regulation; HPE13 can thus be classified as a 'cohesinopathy' (summary by Kruszka et al., 2019). For a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). (301043)

MalaCards based summary : Holoprosencephaly 13, X-Linked, is also known as hpe13. An important gene associated with Holoprosencephaly 13, X-Linked is STAG2 (Stromal Antigen 2). Affiliated tissues include brain and heart.

Related Diseases for Holoprosencephaly 13, X-Linked

Symptoms & Phenotypes for Holoprosencephaly 13, X-Linked

Clinical features from OMIM:

301043

Drugs & Therapeutics for Holoprosencephaly 13, X-Linked

Search Clinical Trials , NIH Clinical Center for Holoprosencephaly 13, X-Linked

Genetic Tests for Holoprosencephaly 13, X-Linked

Anatomical Context for Holoprosencephaly 13, X-Linked

MalaCards organs/tissues related to Holoprosencephaly 13, X-Linked:

40
Brain, Heart

Publications for Holoprosencephaly 13, X-Linked

Articles related to Holoprosencephaly 13, X-Linked:

# Title Authors PMID Year
1
Cohesin complex-associated holoprosencephaly. 56 6
31334757 2019
2
Nonsense variants in STAG2 result in distinct sex-dependent phenotypes. 6 56
30765867 2019
3
De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. 6
28296084 2017

Variations for Holoprosencephaly 13, X-Linked

ClinVar genetic disease variations for Holoprosencephaly 13, X-Linked:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STAG2 NM_001042750.2(STAG2):c.205C>T (p.Arg69Ter)SNV Pathogenic 623239 rs1569507848 X:123164892-123164892 X:124031042-124031042
2 STAG2 NM_001042750.2(STAG2):c.3097C>T (p.Arg1033Ter)SNV Pathogenic 623246 rs1569520709 X:123220440-123220440 X:124086590-124086590
3 STAG2 NM_001042750.2(STAG2):c.3034C>T (p.Arg1012Ter)SNV Pathogenic 864831 X:123217380-123217380 X:124083530-124083530
4 STAG2 NM_001042750.2(STAG2):c.436C>T (p.Arg146Ter)SNV Pathogenic 864832 X:123176469-123176469 X:124042619-124042619

Expression for Holoprosencephaly 13, X-Linked

Search GEO for disease gene expression data for Holoprosencephaly 13, X-Linked.

Pathways for Holoprosencephaly 13, X-Linked

GO Terms for Holoprosencephaly 13, X-Linked

Sources for Holoprosencephaly 13, X-Linked

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
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43 MeSH
44 MESH via Orphanet
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48 NCI
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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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