Momo Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MMS001 MIFTS: 28	Momo Syndrome Categories: Endocrine diseases, Fetal diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Momo Syndrome

MalaCards integrated aliases for Momo Syndrome:

Name: Momo Syndrome ⁵⁷ ⁷³ ²⁰ ⁵⁸

Macrocephaly-Obesity-Mental Disability-Ocular Abnormalities Syndrome ⁵⁸

Macrosomia-Obesity-Macrocephaly-Ocular Abnormalities Syndrome ⁵⁸

Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities ⁵⁷

Macrosomia, Obesity, Macrocephaly, Ocular Abnormalities ²⁰

Macrosomia Obesity Macrocephaly Ocular Abnormalities ⁷⁰

Macrocrania, Obesity, Ocular Abnormalities ²⁰

Characteristics:

Orphanet epidemiological data:

⁵⁸

momo syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal dominant

Miscellaneous:
momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities

HPO:

³¹

momo syndrome:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Metabolic diseases
Anatomical: Endocrine diseases Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes involving early overgrowth

Orphanet: ⁵⁸

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 157980

ICD10 via Orphanet ³³ Q87.3

UMLS via Orphanet ⁷¹ C1834759

Orphanet ⁵⁸ ORPHA2563

MedGen ⁴¹ C1834759

UMLS ⁷⁰ C1834759

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Summaries for Momo Syndrome

GARD : ²⁰ MOMO syndrome was named for the features associated with the syndrome including macrosomia (being larger than expected from birth), obesity, macrocephaly (having a large head size) and ocular (eye) abnormalities. It has also been proposed that mental (intellectual) disability may be used as an identifying feature of the syndrome instead of macrosomia, as macrosomia has not been reported in all affected individuals. MOMO syndrome is very rare, with only about a dozen reported cases in the scientific literature. The exact cause of MOMO syndrome is unknown. One report has identified that the LINC00237 gene may be the cause of MOMO syndrome. Both autosomal dominant and autosomal recessive inheritance patterns have been suggested. MOMO syndrome is diagnosed when a doctor observes signs consistent with the syndrome. Tests may be completed to rule out other genetic syndromes. Treatment for the syndrome depends on the exact features that each person has.

MalaCards based summary : Momo Syndrome, also known as macrocephaly-obesity-mental disability-ocular abnormalities syndrome, is related to coloboma of macula and autism. An important gene associated with Momo Syndrome is LINC00237 (Long Intergenic Non-Protein Coding RNA 237). Affiliated tissues include eye, bone and thyroid, and related phenotypes are obesity and macrocephaly

Wikipedia : ⁷³ MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has... more...

More information from OMIM: 157980

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Related Diseases for Momo Syndrome

Diseases related to Momo Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)

#	Related Disease	Score
1	coloboma of macula	10.1
2	autism	10.1
3	alacrima, achalasia, and mental retardation syndrome	10.1
4	overgrowth syndrome	10.1
5	pseudohypoparathyroidism, type ia	9.9
6	lateral meningocele syndrome	9.9
7	kabuki syndrome 1	9.9
8	cryptorchidism, unilateral or bilateral	9.9
9	autism spectrum disorder	9.9
10	holoprosencephaly	9.9
11	pathologic nystagmus	9.9
12	retinochoroidal coloboma	9.9
13	rare intellectual disability	9.9

Graphical network of the top 20 diseases related to Momo Syndrome:

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Symptoms & Phenotypes for Momo Syndrome

Human phenotypes related to Momo Syndrome:

⁵⁸ ³¹ (show all 50)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	obesity ⁵⁸ ³¹	obligate (100%)	Obligate (100%)	HP:0001513
2	macrocephaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000256
3	intellectual disability ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001249
4	frontal bossing ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002007
5	nystagmus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000639
6	high palate ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000218
7	short neck ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000470
8	hypertelorism ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000316
9	dental malocclusion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000689
10	smooth philtrum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000319
11	short stature ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004322
12	brachycephaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000248
13	thick lower lip vermilion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000179
14	strabismus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000486
15	short sternum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000879
16	downslanted palpebral fissures ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000494
17	glaucoma ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000501
18	delayed eruption of teeth ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000684
19	chorioretinal coloboma ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000567
20	long philtrum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000343
21	taurodontia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000679
22	broad forehead ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000337
23	high forehead ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000348
24	large hands ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001176
25	large for gestational age ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001520
26	cutis marmorata ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000965
27	thick upper lip vermilion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000215
28	femoral bowing ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002980
29	hyperconvex nail ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001795
30	abnormal bone ossification ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011849
31	underfolded helix ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008577
32	long foot ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001833
33	overgrowth ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001548
34	bilateral microphthalmos ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007633
35	wide nasal base ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012810
36	sound sensitivity ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0025112
37	epicanthus ³¹	frequent (33%)		HP:0000286
38	seizure ³¹	frequent (33%)		HP:0001250
39	eyelid coloboma ³¹	frequent (33%)		HP:0000625
40	blindness ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000618
41	autism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000717
42	congenital pseudoarthrosis of the clavicle ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006585
43	seizures ⁵⁸		Frequent (79-30%)
44	delayed skeletal maturation ³¹			HP:0002750
45	wide nasal bridge ³¹			HP:0000431
46	cleft eyelid ⁵⁸		Frequent (79-30%)
47	tall stature ⁵⁸		Occasional (29-5%)
48	abnormality of the thyroid gland ⁵⁸		Excluded (0%)
49	retinal coloboma ³¹			HP:0000480
50	prominent epicanthal folds ⁵⁸		Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Head And Neck Head:
macrocephaly
brachycephaly

Head And Neck Eyes:
nystagmus
hypertelorism
blindness
strabismus
glaucoma
more

Head And Neck Teeth:
dental malocclusion
taurodontia
delayed dental eruption

Growth Weight:
obesity

Skin Nails Hair Skin:
cutis marmorata

Head And Neck Mouth:
high-arched palate
thick lips

Skeletal:
delayed bone age

Skin Nails Hair Nails:
hyperconvex nails

Growth Height:
height >90th percentile

Skeletal Skull:
macrocrania

Head And Neck Face:
frontal bossing
high, broad forehead
long, smooth philtrum

Head And Neck Neck:
short neck

Chest Ribs Sternum Clavicles And Scapulae:
short sternum

Skeletal Hands:
large hands

Growth Other:
overgrowth

Skeletal Feet:
large feet

Neurologic Central Nervous System:
mental retardation

Head And Neck Nose:
broad nasal root

Head And Neck Ears:
simplified helices

Clinical features from OMIM®:

157980 (Updated 20-May-2021)

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Drugs & Therapeutics for Momo Syndrome

Search Clinical Trials , NIH Clinical Center for Momo Syndrome

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Genetic Tests for Momo Syndrome

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Anatomical Context for Momo Syndrome

MalaCards organs/tissues related to Momo Syndrome:

⁴⁰

Eye, Bone, Thyroid

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Publications for Momo Syndrome

Articles related to Momo Syndrome:

#	Title	Authors	PMID	Year
1	A new case of MOMO syndrome. ⁶¹ ⁵⁷	Wallerstein R...Sugalski RD	19996736	2010
2	MOMO syndrome associated with autism: a case report. ⁶¹ ⁵⁷	Giunco CT...Fett-Conte AC	19048502	2008
3	MOMO syndrome: a possible third case. ⁵⁷ ⁶¹	Zannolli R...Morgese G	11045586	2000
4	Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome. ⁶¹ ⁵⁷	Moretti-Ferreira D...Wajntal A	8322820	1993
5	Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndrome. ²⁰ ⁶¹	Di Donato N...Tinschert S	22821547	2012
6	A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome. ⁶¹ ²⁰	Vu PY...Taine L	23034868	2012
7	Psychological and cognitive evaluation of autism in a patient with MOMO syndrome: a case report and literature review. ⁶¹	Passalacqua C...Arancibia M	31075093	2019
8	MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome. ⁶¹	Sharda S...Marwaha RK	23074680	2011
9	Genetic obesity syndromes. ⁶¹	Goldstone AP...Beales PL	18230893	2008

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Genes for Momo Syndrome

Genes related to Momo Syndrome (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LINC00237	Long Intergenic Non-Protein Coding RNA 237	RNA Gene	150	Experimental evidence: Regulation ³⁸	23034868

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Variations for Momo Syndrome

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Expression for Momo Syndrome

Search GEO for disease gene expression data for Momo Syndrome.

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Pathways for Momo Syndrome

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GO Terms for Momo Syndrome

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Sources for Momo Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia