MORMS
MCID: MNT318
MIFTS: 29

Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome (MORMS)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare 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 20 58 72 29 6 70
Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis 57 72 13
Penile Diseases 44 70
Morms 57 72
Syndrome, Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis 39
Intellectual Disability-Truncal Obesity-Retinal Dystrophy-Micropenis Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
morm syndrome
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

OMIM® 57 610156
MESH via Orphanet 45 C536984
UMLS via Orphanet 71 C1857802
Orphanet 58 ORPHA75858
MedGen 41 C1857802
UMLS 70 C0030846 C1857802

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

UniProtKB/Swiss-Prot : 72 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 bardet-biedl syndrome 1, 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 eye and retina, and related phenotypes are cataract and delayed speech and language development

Wikipedia : 73 MORM syndrome is an autosomal recessive congenital disorder characterized by mental retardation, truncal... more...

More information 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:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 penile disease 11.1
2 bardet-biedl syndrome 1 10.0
3 joubert syndrome 1 10.0
4 cohen syndrome 10.0
5 polydactyly 10.0
6 autosomal recessive disease 10.0
7 microcephaly 10.0
8 bardet-biedl syndrome 10.0
9 fundus dystrophy 10.0
10 penis agenesis 10.0
11 inherited retinal disorder 10.0
12 impotence 9.9
13 priapism 9.8

Graphical network of the top 20 diseases related to Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:



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

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

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

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 delayed speech and language development 31 HP:0000750
3 micropenis 31 HP:0000054
4 reduced visual acuity 31 HP:0007663
5 intellectual disability, moderate 31 HP:0002342
6 truncal obesity 31 HP:0001956
7 retinal dystrophy 31 HP:0000556
8 childhood-onset truncal obesity 31 HP:0008915

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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

Growth Weight:
truncal obesity apparent in childhood

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

Clinical features from OMIM®:

610156 (Updated 05-Apr-2021)

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...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment With Stromal Vascular Fraction of Peyronie´s Disease in Humans Not yet recruiting NCT04771442 Phase 1 Stromal vascular fraction
2 Phase 1 Pilot Study of Bioengineered Penile Tissue Constructs in Subjects With Irreversibly Damaged Penile Corpora Not yet recruiting NCT03463239 Phase 1
3 Efficacy of Penile Traction Therapy Using a Novel Device: A Controlled, Single-blinded, Randomized Trial Completed NCT03389854
4 Pseudoepitheliomatous Hyperplasia of the Penis a Very Rare Disease in Egypt Completed NCT04725292
5 a New Approach: the Use of Shear Wave Elastosonography of the Corpora Cavernosa for the Diagnosis of Erectile Dysfunction. Recruiting NCT04399057
6 Penile Length Restoration in Men With Diabetes Mellitus, Type II Recruiting NCT03756688
7 Penile Length Maintenance Post-Prostatectomy Recruiting NCT03500419
8 Safety and Efficacy of Low-intensity Shockwave Therapy for Peyronie's Disease Recruiting NCT04821115

Search 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:

40
Eye, Retina

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

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

# Title Authors PMID Year
1
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 61 6 57
19668215 2009
2
MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34. 57 61
16493448 2006
3
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan. 61
31173343 2019

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 Name Type Significance ClinVarId dbSNP ID Position
1 INPP5E NM_019892.6(INPP5E):c.1879C>T (p.Gln627Ter) SNV Pathogenic 396 rs121918127 GRCh37: 9:139324183-139324183
GRCh38: 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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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