MORMS
MCID: MNT318
MIFTS: 35

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
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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 38
Morm Syndrome 57 19 58 73 28 5 71 75
Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis 57 12
Morms 57 73
Intellectual Disability-Truncal Obesity-Retinal Dystrophy-Micropenis Syndrome 58
Intellectual Disability, Truncal Obesity, Retinal Dystrophy, and Micropenis 73
Intellectual Disability, Truncal Obesity, Retinal Dystrophy and Micropenis 19
Penile Diseases 71

Characteristics:


Inheritance:

Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome: Autosomal recessive 57
Morm Syndrome: Autosomal recessive 58

Classifications:

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


External Ids:

OMIM® 57 610156
MESH via Orphanet 44 C536984
UMLS via Orphanet 72 C1857802
Orphanet 58 ORPHA75858
MedGen 40 C1857802
UMLS 71 C0030846 C1857802

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

UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by moderate intellectual disability, 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 bardet-biedl syndrome 1 and joubert 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). The drugs Lidocaine and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and skin, and related phenotypes are delayed speech and language development and visual impairment

GARD: 19 A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life.

Orphanet: 58 A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life.

Wikipedia: 75 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...

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:

58 30 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000750
2 visual impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000505
3 micropenis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000054
4 truncal obesity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001956
5 cataract 58 30 Frequent (33%) Frequent (79-30%)
HP:0000518
6 intellectual disability, mild 58 30 Frequent (33%) Frequent (79-30%)
HP:0001256
7 intellectual disability, severe 58 30 Frequent (33%) Frequent (79-30%)
HP:0010864
8 intellectual disability, moderate 58 30 Frequent (33%) Frequent (79-30%)
HP:0002342
9 retinal dystrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000556
10 aggressive behavior 58 30 Frequent (33%) Frequent (79-30%)
HP:0000718
11 hyperactivity 58 30 Frequent (33%) Frequent (79-30%)
HP:0000752
12 progressive night blindness 58 30 Frequent (33%) Frequent (79-30%)
HP:0007675
13 poor speech 58 30 Frequent (33%) Frequent (79-30%)
HP:0002465
14 retinal atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001105
15 abnormality of the kidney 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000077
16 nystagmus 58 Excluded (0%)
17 hypotonia 58 Excluded (0%)
18 photophobia 58 Excluded (0%)
19 reduced visual acuity 30 HP:0007663
20 childhood-onset truncal obesity 30 HP:0008915

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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...

Drugs for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved 137-58-6 3676
2 Anesthetics
3 Hypnotics and Sedatives

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment With Stromal Vascular Fraction of Peyronie´s Disease in Humans 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 a New Approach: the Use of Shear Wave Elastosonography of the Corpora Cavernosa for the Diagnosis of Erectile Dysfunction. Unknown status NCT04399057
4 Pseudoepitheliomatous Hyperplasia of the Penis a Very Rare Disease in Egypt Completed NCT04725292
5 Efficacy of Penile Traction Therapy Using a Novel Device: A Controlled, Single-blinded, Randomized Trial Completed NCT03389854
6 Penile Length Maintenance Post-Prostatectomy Completed NCT03500419
7 Penile Length Restoration in Men With Diabetes Mellitus, Type II Recruiting NCT03756688
8 Safety and Efficacy of Low-intensity Shockwave Therapy for Peyronie's Disease Recruiting NCT04821115
9 Evaluating Patient Tolerability and Success for Penile and Scrotal Urologic Procedures Under Conscious Sedation: A Prospective Study Enrolling by invitation NCT05617261

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

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 28 INPP5E

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

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

MalaCards : Eye, Retina, Skin, Kidney

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. 62 57 5
19668215 2009
2
MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34. 62 57
16493448 2006
3
Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient. 62
34211432 2021
4
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan. 62
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:

5
# 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
2 INPP5E NM_019892.6(INPP5E):c.1861C>T (p.Arg621Trp) SNV Pathogenic
426904 rs142759730 GRCh37: 9:139324201-139324201
GRCh38: 9:136429749-136429749
3 INPP5E NM_019892.6(INPP5E):c.1248T>C (p.Thr416=) SNV Benign
129265 rs10781542 GRCh37: 9:139327439-139327439
GRCh38: 9:136432987-136432987
4 INPP5E NM_019892.6(INPP5E):c.1284T>C (p.Gly428=) SNV Benign
129266 rs10870194 GRCh37: 9:139327034-139327034
GRCh38: 9:136432582-136432582
5 INPP5E NM_019892.6(INPP5E):c.1521C>T (p.His507=) SNV Benign
129268 rs10870188 GRCh37: 9:139326304-139326304
GRCh38: 9:136431852-136431852
6 INPP5E NM_019892.6(INPP5E):c.1791G>A (p.Pro597=) SNV Benign
129270 rs10870182 GRCh37: 9:139324740-139324740
GRCh38: 9:136430288-136430288
7 INPP5E NM_019892.6(INPP5E):c.972A>G (p.Pro324=) SNV Benign
129277 rs10870199 GRCh37: 9:139328551-139328551
GRCh38: 9:136434099-136434099
8 INPP5E NM_019892.6(INPP5E):c.812+7_812+10del MICROSAT Benign
261203 rs5901103 GRCh37: 9:139333050-139333053
GRCh38: 9:136438598-136438601

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...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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