BS2
MCID: BMN004
MIFTS: 21

Biemond Syndrome Ii (BS2)

Categories: Fetal diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Biemond Syndrome Ii

MalaCards integrated aliases for Biemond Syndrome Ii:

Name: Biemond Syndrome Ii 56 71
Biemond Syndrome Type 2 58 71
Iris Coloboma, Mental Retardation, Obesity, Hypogenitalism, and Postaxial Polydactyly 52
Hypogonadism-Short Stature-Coloboma-Preaxial Polydactyly Syndrome 58
Biemond Syndrome 2 52
Bs2 52

Characteristics:

Orphanet epidemiological data:

58
biemond syndrome type 2
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: adult,infantile;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
biemond syndrome ii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 210350
UMLS via Orphanet 72 C1859487 C2930903
Orphanet 58 ORPHA141333
MedGen 41 C1859487
UMLS 71 C1859487 C2930903

Summaries for Biemond Syndrome Ii

MalaCards based summary : Biemond Syndrome Ii, also known as biemond syndrome type 2, is related to bartter syndrome, type 2, antenatal and chondrodysplasia punctata syndrome. Related phenotypes are obesity and intellectual disability

More information from OMIM: 210350

Related Diseases for Biemond Syndrome Ii

Graphical network of the top 20 diseases related to Biemond Syndrome Ii:



Diseases related to Biemond Syndrome Ii

Symptoms & Phenotypes for Biemond Syndrome Ii

Human phenotypes related to Biemond Syndrome Ii:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
6 hypogonadotrophic hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000044
7 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
8 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047
9 coloboma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000589
10 mandibulofacial dysostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005321
11 preaxial polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0100258
12 abnormality of the endocrine system 31 HP:0000818
13 hypogonadism 58 Very frequent (99-80%)
14 iris coloboma 31 HP:0000612
15 preaxial hand polydactyly 31 HP:0001177

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hydrocephalus
mental retardation

Head And Neck Eyes:
iris coloboma

Endocrine Features:
hypogonadaism

Growth Height:
short stature

Skeletal Hands:
preaxial polydactyly

Clinical features from OMIM:

210350

Drugs & Therapeutics for Biemond Syndrome Ii

Search Clinical Trials , NIH Clinical Center for Biemond Syndrome Ii

Genetic Tests for Biemond Syndrome Ii

Anatomical Context for Biemond Syndrome Ii

Publications for Biemond Syndrome Ii

Articles related to Biemond Syndrome Ii:

# Title Authors PMID Year
1
Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes. 61 56
9098485 1997
2
[Differential diagnosis of Bardet-Biedl syndrome]. 56
13109178 1953

Variations for Biemond Syndrome Ii

Expression for Biemond Syndrome Ii

Search GEO for disease gene expression data for Biemond Syndrome Ii.

Pathways for Biemond Syndrome Ii

GO Terms for Biemond Syndrome Ii

Sources for Biemond Syndrome Ii

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
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
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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