MCID: MLC004
MIFTS: 14

Mulchandani-Bhoj-Conlin Syndrome

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Mulchandani-Bhoj-Conlin Syndrome

MalaCards integrated aliases for Mulchandani-Bhoj-Conlin Syndrome:

Name: Mulchandani-Bhoj-Conlin Syndrome 57
Maternal Uniparental Disomy of Chromosome 20 59
Uniparental Disomy, Maternal, Chromosome 20 57
Maternal Upd(20) 59
Upd(20)mat 59
Mbcs 57

Characteristics:

Orphanet epidemiological data:

59
maternal uniparental disomy of chromosome 20
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

OMIM 57 617352
Orphanet 59 ORPHA96186
ICD10 via Orphanet 34 Q99.8

Summaries for Mulchandani-Bhoj-Conlin Syndrome

OMIM : 57 The Mulchandani-Bhoj-Conlin syndrome is characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty (Mulchandani et al., 2016). (617352)

MalaCards based summary : Mulchandani-Bhoj-Conlin Syndrome, also known as maternal uniparental disomy of chromosome 20, is related to breast cancer and chromosome 20 trisomy. An important gene associated with Mulchandani-Bhoj-Conlin Syndrome is MBCS (Mulchandani-Bhoj-Conlin Syndrome).

Related Diseases for Mulchandani-Bhoj-Conlin Syndrome

Diseases related to Mulchandani-Bhoj-Conlin Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 breast cancer 10.4
2 chromosome 20 trisomy 10.0
3 endotheliitis 9.9

Symptoms & Phenotypes for Mulchandani-Bhoj-Conlin Syndrome

Clinical features from OMIM:

617352

Drugs & Therapeutics for Mulchandani-Bhoj-Conlin Syndrome

Search Clinical Trials , NIH Clinical Center for Mulchandani-Bhoj-Conlin Syndrome

Genetic Tests for Mulchandani-Bhoj-Conlin Syndrome

Anatomical Context for Mulchandani-Bhoj-Conlin Syndrome

Publications for Mulchandani-Bhoj-Conlin Syndrome

Articles related to Mulchandani-Bhoj-Conlin Syndrome:

# Title Authors Year
1
Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20. ( 11746130 )
2001
2
Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients. ( 11158171 )
2001

Variations for Mulchandani-Bhoj-Conlin Syndrome

Expression for Mulchandani-Bhoj-Conlin Syndrome

Search GEO for disease gene expression data for Mulchandani-Bhoj-Conlin Syndrome.

Pathways for Mulchandani-Bhoj-Conlin Syndrome

GO Terms for Mulchandani-Bhoj-Conlin Syndrome

Sources for Mulchandani-Bhoj-Conlin Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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