MCID: CLB031
MIFTS: 16

Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome

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

Aliases & Classifications for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome

MalaCards integrated aliases for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome:

Name: Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 56 71
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant form


HPO:

31
coloboma-obesity-hypogenitalism-mental retardation syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 601794
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1866256
Orphanet 58 ORPHA363741
MedGen 41 C1866256
UMLS 71 C1866256

Summaries for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome

MalaCards based summary : Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome, is also known as colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome. Affiliated tissues include eye and retina, and related phenotypes are cataract and cryptorchidism

More information from OMIM: 601794

Related Diseases for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome

Symptoms & Phenotypes for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome

Human phenotypes related to Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 Frequent (79-30%) HP:0000518
2 cryptorchidism 58 31 Occasional (29-5%) HP:0000028
3 obesity 58 31 Frequent (79-30%) HP:0001513
4 microphthalmia 58 31 Frequent (79-30%) HP:0000568
5 gynecomastia 58 31 Occasional (29-5%) HP:0000771
6 rod-cone dystrophy 58 31 Occasional (29-5%) HP:0000510
7 intellectual disability, borderline 58 31 Occasional (29-5%) HP:0006889
8 hypogonadism 58 31 Frequent (79-30%) HP:0000135
9 retinal coloboma 58 31 Frequent (79-30%) HP:0000480
10 arachnoid cyst 58 31 Occasional (29-5%) HP:0100702
11 intellectual disability 58 Frequent (79-30%)
12 hydrocephalus 31 HP:0000238
13 nystagmus 58 Frequent (79-30%)
14 neurodevelopmental delay 58 Frequent (79-30%)
15 external genital hypoplasia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Eyes:
cataract
microphthalmia
coloboma of retina
atypical retinitis pigmentosa

Growth:
obesity

Neuro:
borderline intelligence/mental retardation hydrocephalus
interhemispheric arachnoid cyst

G U:
cryptorchidism
hypogonadism

Thorax:
gynecomastia

Clinical features from OMIM:

601794

Drugs & Therapeutics for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome

Search Clinical Trials , NIH Clinical Center for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome

Genetic Tests for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome

Anatomical Context for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome

MalaCards organs/tissues related to Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome:

40
Eye, Retina

Publications for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome

Articles related to Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome:

# 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. 56
9098485 1997

Variations for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome

Expression for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome

Search GEO for disease gene expression data for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome.

Pathways for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome

GO Terms for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome

Sources for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome

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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