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 58 74
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant form


HPO:

33
coloboma-obesity-hypogenitalism-mental retardation syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 601794
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C1866256
Orphanet 60 ORPHA363741
MedGen 43 C1866256
UMLS 74 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

Description 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:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 obesity 33 HP:0001513
2 hydrocephalus 33 HP:0000238
3 cataract 33 HP:0000518
4 cryptorchidism 33 HP:0000028
5 hypogonadism 33 HP:0000135
6 microphthalmia 33 HP:0000568
7 gynecomastia 33 HP:0000771
8 rod-cone dystrophy 33 HP:0000510
9 intellectual disability, borderline 33 HP:0006889
10 arachnoid cyst 33 HP:0100702
11 retinal coloboma 33 HP:0000480

Symptoms via clinical synopsis from OMIM:

58
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:

42
Eye, Retina

Publications for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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