MCID: CLB031
MIFTS: 15

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 57 72
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant form


HPO:

32
coloboma-obesity-hypogenitalism-mental retardation syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601794
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1866256
Orphanet 59 ORPHA363741
MedGen 42 C1866256
UMLS 72 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 obesity and hydrocephalus

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:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 hydrocephalus 32 HP:0000238
3 cataract 32 HP:0000518
4 cryptorchidism 32 HP:0000028
5 hypogonadism 32 HP:0000135
6 microphthalmia 32 HP:0000568
7 gynecomastia 32 HP:0000771
8 rod-cone dystrophy 32 HP:0000510
9 intellectual disability, borderline 32 HP:0006889
10 arachnoid cyst 32 HP:0100702
11 retinal coloboma 32 HP:0000480

Symptoms via clinical synopsis from OMIM:

57
Growth:
obesity

G U:
cryptorchidism
hypogonadism

Neuro:
borderline intelligence/mental retardation hydrocephalus
interhemispheric arachnoid cyst

Eyes:
cataract
microphthalmia
coloboma of retina
atypical retinitis pigmentosa

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:

41
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. 8
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 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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