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MORM syndrome(MORMS)

MedGen UID:
341851
•Concept ID:
C1857802
•
Disease or Syndrome
Synonyms: Mental retardation, truncal obesity, retinal dystrophy and micropenis; MORMS
SNOMED CT: Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (715628009); MORM syndrome (715628009); Mental retardation, truncal obesity, retinal dystrophy and micropenis syndrome (715628009); MORM (mental retardation, truncal obesity, retinal dystrophy, micropenis) syndrome (715628009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): INPP5E (9q34.3)
 
Monarch Initiative: MONDO:0012423
OMIM®: 610156
Orphanet: ORPHA75858

Definition

Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome (MORMS) is an autosomal recessive disorder characterized by these findings (Hampshire et al., 2006). [from OMIM]

Clinical features

From HPO
Micropenis
MedGen UID:
1633603
•Concept ID:
C4551492
•
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
See: Feature record | Search on this feature
Childhood-onset truncal obesity
MedGen UID:
348475
•Concept ID:
C1859846
•
Finding
Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.
See: Feature record | Search on this feature
Truncal obesity
MedGen UID:
1637490
•Concept ID:
C4551560
•
Finding
Obesity located preferentially in the trunk of the body as opposed to the extremities.
See: Feature record | Search on this feature
Intellectual disability, moderate
MedGen UID:
7680
•Concept ID:
C0026351
•
Mental or Behavioral Dysfunction
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
See: Feature record | Search on this feature
Spasticity
MedGen UID:
7753
•Concept ID:
C0026838
•
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
See: Feature record | Search on this feature
Delayed speech and language development
MedGen UID:
105318
•Concept ID:
C0454644
•
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
See: Feature record | Search on this feature
Hypotonia
MedGen UID:
10133
•Concept ID:
C0026827
•
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
See: Feature record | Search on this feature
Night blindness
MedGen UID:
10349
•Concept ID:
C0028077
•
Disease or Syndrome
Inability to see well at night or in poor light.
See: Feature record | Search on this feature
Cataract
MedGen UID:
39462
•Concept ID:
C0086543
•
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Retinal dystrophy
MedGen UID:
208903
•Concept ID:
C0854723
•
Finding
Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMORM syndrome
Follow this link to review classifications for MORM syndrome in Orphanet.

Recent clinical studies

Etiology

BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.
Khan S, Lin S, Harlalka GV, Ullah A, Shah K, Khalid S, Mehmood S, Hassan MJ, Ahmad W, Self JE, Crosby AH, Baple EL, Gul A
Ann Hum Genet 2019 Nov;83(6):477-482. Epub 2019 Jun 7 doi: 10.1111/ahg.12336. PMID: 31173343
Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.
de Goede C, Yue WW, Yan G, Ariyaratnam S, Chandler KE, Downes L, Khan N, Mohan M, Lowe M, Banka S
Eur J Paediatr Neurol 2016 Mar;20(2):286-295. Epub 2015 Dec 18 doi: 10.1016/j.ejpn.2015.11.012. PMID: 26748598

Diagnosis

Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient.
Drole Torkar A, Avbelj Stefanija M, Bertok S, Trebušak Podkrajšek K, Debeljak M, Stirn Kranjc B, Battelino T, Kotnik P
Front Endocrinol (Lausanne) 2021;12:581134. Epub 2021 Jun 15 doi: 10.3389/fendo.2021.581134. PMID: 34211432Free PMC Article
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.
Khan S, Lin S, Harlalka GV, Ullah A, Shah K, Khalid S, Mehmood S, Hassan MJ, Ahmad W, Self JE, Crosby AH, Baple EL, Gul A
Ann Hum Genet 2019 Nov;83(6):477-482. Epub 2019 Jun 7 doi: 10.1111/ahg.12336. PMID: 31173343
Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.
de Goede C, Yue WW, Yan G, Ariyaratnam S, Chandler KE, Downes L, Khan N, Mohan M, Lowe M, Banka S
Eur J Paediatr Neurol 2016 Mar;20(2):286-295. Epub 2015 Dec 18 doi: 10.1016/j.ejpn.2015.11.012. PMID: 26748598
MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.
Hampshire DJ, Ayub M, Springell K, Roberts E, Jafri H, Rashid Y, Bond J, Riley JH, Woods CG
Eur J Hum Genet 2006 May;14(5):543-8. doi: 10.1038/sj.ejhg.5201577. PMID: 16493448

Clinical prediction guides

MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.
Hampshire DJ, Ayub M, Springell K, Roberts E, Jafri H, Rashid Y, Bond J, Riley JH, Woods CG
Eur J Hum Genet 2006 May;14(5):543-8. doi: 10.1038/sj.ejhg.5201577. PMID: 16493448

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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