MCID: MNT318
MIFTS: 25

Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome

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

Aliases & Classifications for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and...

MalaCards integrated aliases for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:

Name: Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 57
Morm Syndrome 57 53 59 75 29 6 73
Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis 57 75 13 40
Penile Diseases 44 73
Morms 57 75
Intellectual Disability-Truncal Obesity-Retinal Dystrophy-Micropenis Syndrome 59
Mental Retardation-Truncal Obesity-Retinal Dystrophy-Micropenis Syndrome 59
Mental Retardation, Truncal Obesity, Retinal Dystrophy and Micropenis 53

Characteristics:

Orphanet epidemiological data:

59
morm syndrome
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 610156
Orphanet 59 ORPHA75858
MESH via Orphanet 45 C536984
UMLS via Orphanet 74 C1857802
MedGen 42 C1857802

Summaries for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and...

UniProtKB/Swiss-Prot : 75 Mental retardation, truncal obesity, retinal dystrophy, and micropenis: An autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies.

MalaCards based summary : Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome, also known as morm syndrome, is related to penile disease and retinitis, and has symptoms including pelvic pain An important gene associated with Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome is INPP5E (Inositol Polyphosphate-5-Phosphatase E). Affiliated tissues include skin, retina and eye, and related phenotypes are micropenis and visual impairment

Wikipedia : 76 MORM syndrome is an autosomal recessive congenital disorder This means that the disorder is present from... more...

Description from OMIM: 610156

Related Diseases for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and...

Diseases related to Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 penile disease 12.1
2 retinitis 9.9
3 fundus dystrophy 9.9
4 impotence 9.5

Symptoms & Phenotypes for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and...

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
truncal obesity apparent in childhood

Genitourinary External Genitalia Male:
micropenis

Head And Neck Eyes:
retinal dystrophy, congenital, nonprogressive
reduced visual acuity by age 3 years
cataracts develop in second or third decade

Neurologic Central Nervous System:
mental retardation, moderate (apparent by age 4 years)
delayed language acquisition


Clinical features from OMIM:

610156

Human phenotypes related to Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 micropenis 32 HP:0000054
2 visual impairment 32 HP:0000505
3 cataract 32 HP:0000518
4 retinal dystrophy 32 HP:0000556
5 delayed speech and language development 32 HP:0000750
6 truncal obesity 32 HP:0001956
7 intellectual disability, moderate 32 HP:0002342
8 childhood-onset truncal obesity 32 HP:0008915

UMLS symptoms related to Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:


pelvic pain

Drugs & Therapeutics for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and...

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome

Cochrane evidence based reviews: penile diseases

Genetic Tests for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and...

Genetic tests related to Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:

# Genetic test Affiliating Genes
1 Morm Syndrome 29 INPP5E

Anatomical Context for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and...

MalaCards organs/tissues related to Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:

41
Skin, Retina, Eye

Publications for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and...

Articles related to Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:

# Title Authors Year
1
MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34. ( 16493448 )
2006

Variations for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and...

ClinVar genetic disease variations for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 INPP5E NM_019892.5(INPP5E): c.1879C> T (p.Gln627Ter) single nucleotide variant Pathogenic rs121918127 GRCh37 Chromosome 9, 139324183: 139324183
2 INPP5E NM_019892.5(INPP5E): c.1879C> T (p.Gln627Ter) single nucleotide variant Pathogenic rs121918127 GRCh38 Chromosome 9, 136429731: 136429731

Expression for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and...

Search GEO for disease gene expression data for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome.

Pathways for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and...

GO Terms for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and...

Sources for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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