MDBH
MCID: MCR380
MIFTS: 11

Microcephaly, Developmental Delay, and Brittle Hair Syndrome (MDBH)

Categories: Genetic diseases

Aliases & Classifications for Microcephaly, Developmental Delay, and Brittle Hair Syndrome

MalaCards integrated aliases for Microcephaly, Developmental Delay, and Brittle Hair Syndrome:

Name: Microcephaly, Developmental Delay, and Brittle Hair Syndrome 56 6
Mdbh 56

Classifications:



External Ids:

OMIM 56 618891

Summaries for Microcephaly, Developmental Delay, and Brittle Hair Syndrome

OMIM : 56 Microcephaly, developmental delay, and brittle hair syndrome (MDBH) is a multisystem disorder with clinical variability. Affected individuals show cognitive and motor disabilities, as well as some degree of fine, brittle hair with microscopic shaft abnormalities. Other shared features include failure to thrive in early childhood and short stature, with some patients exhibiting feeding difficulties and hepatic steatosis (Kuo et al., 2019). (618891)

MalaCards based summary : Microcephaly, Developmental Delay, and Brittle Hair Syndrome, is also known as mdbh. An important gene associated with Microcephaly, Developmental Delay, and Brittle Hair Syndrome is CARS1 (Cysteinyl-TRNA Synthetase 1).

Related Diseases for Microcephaly, Developmental Delay, and Brittle Hair Syndrome

Symptoms & Phenotypes for Microcephaly, Developmental Delay, and Brittle Hair Syndrome

Clinical features from OMIM:

618891

Drugs & Therapeutics for Microcephaly, Developmental Delay, and Brittle Hair Syndrome

Search Clinical Trials , NIH Clinical Center for Microcephaly, Developmental Delay, and Brittle Hair Syndrome

Genetic Tests for Microcephaly, Developmental Delay, and Brittle Hair Syndrome

Anatomical Context for Microcephaly, Developmental Delay, and Brittle Hair Syndrome

Publications for Microcephaly, Developmental Delay, and Brittle Hair Syndrome

Articles related to Microcephaly, Developmental Delay, and Brittle Hair Syndrome:

# Title Authors PMID Year
1
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. 6 56
30824121 2019
2
Purifications of rat adrenal dopamine-beta-hydroxylase: immunological analysis of its soluble and membrane-bound forms with the use of an antibody raised against the soluble form. 61
3047318 1988
3
A monoclonal antibody to dopamine beta-monooxygenase: detection of biosynthetic intermediates. 61
2409921 1985
4
Dopamine-beta-hydroxylase: structural comparisons of membrane-bound versus soluble forms from adrenal medulla and pheochromocytoma. 61
3965617 1985

Variations for Microcephaly, Developmental Delay, and Brittle Hair Syndrome

ClinVar genetic disease variations for Microcephaly, Developmental Delay, and Brittle Hair Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CARS1 NM_001014437.3(CARS1):c.2310dup (p.Ser771fs)duplication Pathogenic 877075 11:3023250-3023251 11:3002020-3002021
2 CARS1 NM_001014437.3(CARS1):c.1271G>A (p.Arg424His)SNV Pathogenic 877076 11:3040493-3040493 11:3019263-3019263
3 CARS1 NM_001014437.3(CARS1):c.1387C>T (p.Gln463Ter)SNV Pathogenic 877077 11:3040377-3040377 11:3019147-3019147
4 CARS1 NM_001014437.3(CARS1):c.1448T>A (p.Leu483Gln)SNV Pathogenic 877078 11:3039927-3039927 11:3018697-3018697
5 CARS1 NM_001014437.3(CARS1):c.1325C>T (p.Ser442Leu)SNV Pathogenic 877079 11:3040439-3040439 11:3019209-3019209

Expression for Microcephaly, Developmental Delay, and Brittle Hair Syndrome

Search GEO for disease gene expression data for Microcephaly, Developmental Delay, and Brittle Hair Syndrome.

Pathways for Microcephaly, Developmental Delay, and Brittle Hair Syndrome

GO Terms for Microcephaly, Developmental Delay, and Brittle Hair Syndrome

Sources for Microcephaly, Developmental Delay, and Brittle Hair Syndrome

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17 EFO
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61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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