MCID: SYB001
MIFTS: 8

Say Barber Miller Syndrome

Categories: Immune diseases, Rare diseases

Aliases & Classifications for Say Barber Miller Syndrome

MalaCards integrated aliases for Say Barber Miller Syndrome:

Name: Say Barber Miller Syndrome 53 72
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 53
Microcephaly Hypogammaglobulinemia Abnormal Immunity 53

Classifications:



External Ids:

UMLS 72 C2931267

Summaries for Say Barber Miller Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3132DefinitionSay-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.EpidemiologyIt has been reported in two brothers born to normal parents.Clinical descriptionAdditional features include hypogonadism, flexion contractures, hypoplastic patellae, scoliosis, eczema and recurrent infections. The characteristic facies was marked by a sloping forehead, beaked nose, large and protruding ears, and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were detected in both boys during infancy.PrognosisThe hypogammaglobulinaemia improved with age but the defective chemotaxis and recurrent infections persisted.Visit the Orphanet disease page for more resources.

MalaCards based summary : Say Barber Miller Syndrome, also known as microcephaly with chemotactic defect and transient hypogammaglobulinemia, is related to microcephaly with chemotactic defect and transient hypogammaglobulinemia and postaxial acrofacial dysostosis.

Related Diseases for Say Barber Miller Syndrome

Diseases related to Say Barber Miller Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephaly with chemotactic defect and transient hypogammaglobulinemia 12.1
2 postaxial acrofacial dysostosis 10.2
3 extrapulmonary tuberculosis 10.2
4 microcephaly 10.2

Symptoms & Phenotypes for Say Barber Miller Syndrome

Drugs & Therapeutics for Say Barber Miller Syndrome

Search Clinical Trials , NIH Clinical Center for Say Barber Miller Syndrome

Genetic Tests for Say Barber Miller Syndrome

Anatomical Context for Say Barber Miller Syndrome

Publications for Say Barber Miller Syndrome

Articles related to Say Barber Miller Syndrome:

# Title Authors PMID Year
1
[Cerebromediastinal tuberculosis in a child with a probable Say-Barber-Miller syndrome: a causative link?]. 38
19108857 2009

Variations for Say Barber Miller Syndrome

Expression for Say Barber Miller Syndrome

Search GEO for disease gene expression data for Say Barber Miller Syndrome.

Pathways for Say Barber Miller Syndrome

GO Terms for Say Barber Miller Syndrome

Sources for Say Barber Miller Syndrome

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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