BS2
MCID: BMN004
MIFTS: 20

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 57 72
Biemond Syndrome Type 2 59 72
Iris Coloboma, Mental Retardation, Obesity, Hypogenitalism, and Postaxial Polydactyly 53
Hypogonadism-Short Stature-Coloboma-Preaxial Polydactyly Syndrome 59
Biemond Syndrome 2 53
Bs2 53

Characteristics:

Orphanet epidemiological data:

59
biemond syndrome type 2
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: adult,infantile;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
biemond syndrome ii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 210350
UMLS via Orphanet 73 C1859487 C2930903
Orphanet 59 ORPHA141333
MedGen 42 C1859487
UMLS 72 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 hydrocephalus and intellectual disability

More information from OMIM: 210350

Related Diseases for Biemond Syndrome Ii

Diseases in the Biemond Syndrome family:

Biemond Syndrome Ii Biemond Syndrome Type 1

Diseases related to Biemond Syndrome Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 2, antenatal 11.3
2 chondrodysplasia punctata syndrome 10.2
3 rhizomelic chondrodysplasia punctata, type 3 10.2
4 rhizomelic chondrodysplasia punctata 10.2
5 anthrax disease 10.2
6 cataract 10.2
7 aniridia 1 10.1
8 coloboma of macula 10.1
9 short-rib thoracic dysplasia 6 with or without polydactyly 10.1
10 coloboma-obesity-hypogenitalism-mental retardation syndrome 10.1
11 polydactyly 10.1
12 chromosome 16p13.3 deletion syndrome, proximal 10.1
13 aniridia 2 10.1
14 microphthalmia 10.1
15 hydrocephalus 10.1
16 hypogonadism 10.1
17 dysostosis 10.1
18 bardet-biedl syndrome 10.1
19 hypogonadotropism 10.1
20 biemond syndrome 10.1
21 congenital hydrocephalus 10.1
22 colobomatous microphthalmia 10.1

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:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 Very frequent (99-80%) HP:0000238
2 intellectual disability 59 32 Very frequent (99-80%) HP:0001249
3 short stature 59 32 Very frequent (99-80%) HP:0004322
4 obesity 59 Very frequent (99-80%)
5 delayed puberty 59 Very frequent (99-80%)
6 hypogonadotrophic hypogonadism 59 Very frequent (99-80%)
7 hypogonadism 59 Very frequent (99-80%)
8 abnormality of the endocrine system 32 HP:0000818
9 microphthalmia 59 Very frequent (99-80%)
10 hypospadias 59 Very frequent (99-80%)
11 iris coloboma 32 HP:0000612
12 preaxial hand polydactyly 32 HP:0001177
13 coloboma 59 Very frequent (99-80%)
14 mandibulofacial dysostosis 59 Very frequent (99-80%)
15 preaxial polydactyly 59 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

57
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. 38 8
9098485 1997
2
[Differential diagnosis of Bardet-Biedl syndrome]. 8
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 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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