Mental Retardation, X-Linked, Syndromic, Martin-Probst Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MRXSMP MCID: MNT146 MIFTS: 34	Mental Retardation, X-Linked, Syndromic, Martin-Probst Type (MRXSMP) Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

Name: Mental Retardation, X-Linked, Syndromic, Martin-Probst Type ⁵⁶ ¹² ⁷³ ²⁹ ¹³ ⁶ ³⁹

Martin-Probst Deafness-Mental Retardation Syndrome ⁵⁶ ⁷³ ⁷¹

Deafness-Intellectual Disability, Martin-Probst Type Syndrome ¹² ¹⁵

Martin-Probst Syndrome ¹² ⁵⁸

Mrxsmp ⁵⁶ ⁷³

Hearing Loss-Intellectual Disability Syndrome, Martin-Probst Type ⁵⁸

X-Linked Hearing Loss-Intellectual Disability Syndrome Syndrome ⁵⁸

Deafness-Intellectual Disability Syndrome, Martin-Probst Type ⁵⁸

X-Linked Deafness-Intellectual Disability Syndrome Syndrome ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

deafness-intellectual disability syndrome, martin-probst type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁶

Inheritance:
x-linked recessive

Miscellaneous:
three males in 1 family have been reported (last curated august 2012)

HPO:

³¹

mental retardation, x-linked, syndromic, martin-probst type:
Inheritance x-linked recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Rare otorhinolaryngological diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060830

OMIM ⁵⁶ 300519

OMIM Phenotypic Series ⁵⁶ PS309510

MeSH ⁴³ D038901

ICD10 ³² Q87.8

ICD10 via Orphanet ³³ Q87.8

UMLS via Orphanet ⁷² C1845285

Orphanet ⁵⁸ ORPHA85321

MedGen ⁴¹ C1845285

UMLS ⁷¹ C1845285

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Summaries for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

UniProtKB/Swiss-Prot : ⁷³ Mental retardation, X-linked, syndromic, Martin-Probst type: A rare neurodevelopmental disorder characterized by mental retardation, sensorineural hearing loss, short stature and craniofacial dysmorphisms. Patients also exhibit abnormal teeth, widely spaced nipples, abnormal dermatoglyphics, renal insufficiency, and impaired haematopoiesis. Mental retardation is defined as significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Martin-Probst Type, also known as martin-probst deafness-mental retardation syndrome, is related to sensorineural hearing loss and retinitis pigmentosa. An important gene associated with Mental Retardation, X-Linked, Syndromic, Martin-Probst Type is RAB40AL (RAB40A Like). Affiliated tissues include eye, kidney and skin, and related phenotypes are dental malocclusion and wide nasal bridge

Disease Ontology : ¹² A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has material basis in variation on the X chromosome.

More information from OMIM: 300519 PS309510

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Related Diseases for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Diseases related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	sensorineural hearing loss	29.4	TIMM8A RAB40AL POU3F4 KCNE5
2	retinitis pigmentosa	10.5
3	choroideremia	10.5
4	branchiootic syndrome 1	10.5
5	neuroretinitis	10.5
6	spinal muscular atrophy	10.5
7	retinitis	10.5
8	muscular atrophy	10.5
9	charcot-marie-tooth hereditary neuropathy	10.5
10	x-linked distal hereditary motor neuropathy	10.5
11	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.5
12	deafness, x-linked 6	9.8	TIMM8A POU3F4
13	deafness, x-linked 1	9.7	TIMM8A POU3F4
14	x-linked nonsyndromic deafness	9.7	TIMM8A POU3F4
15	mohr-tranebjaerg syndrome	9.6	TIMM8A POU3F4
16	deafness, x-linked 4	9.6	TIMM8A RAB40AL POU3F4
17	deafness, x-linked 2	9.5	TIMM8A POU3F4

Graphical network of the top 20 diseases related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

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Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

⁵⁸ ³¹ (show all 38)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	dental malocclusion ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000689
2	wide nasal bridge ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000431
3	umbilical hernia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001537
4	sensorineural hearing impairment ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000407
5	intellectual disability, severe ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0010864
6	wide intermamillary distance ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0006610
7	aplasia/hypoplasia of the nipples ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0006709
8	low-set ears ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000369
9	abnormal dermatoglyphics ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007477
10	wide mouth ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000154
11	intellectual disability, moderate ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002342
12	malar flattening ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000272
13	telecanthus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000506
14	cataract ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000518
15	microcephaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000252
16	short stature ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004322
17	hypothyroidism ⁵⁸ ³¹	occasional (7.5%)	Frequent (79-30%)	HP:0000821
18	renal insufficiency ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000083
19	thick lower lip vermilion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000179
20	telangiectasia of the skin ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0100585
21	everted lower lip vermilion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000232
22	cryptorchidism ⁵⁸ ³¹	occasional (7.5%)	Frequent (79-30%)	HP:0000028
23	micrognathia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000347
24	epicanthus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000286
25	myopia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000545
26	bifid scrotum ⁵⁸ ³¹	occasional (7.5%)	Frequent (79-30%)	HP:0000048
27	renal hypoplasia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000089
28	blepharophimosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000581
29	hypoplasia of penis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008736
30	pancytopenia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001876
31	renal dysplasia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000110
32	proteinuria ³¹	frequent (33%)		HP:0000093
33	micropenis ³¹	occasional (7.5%)		HP:0000054
34	intellectual disability ³¹			HP:0001249
35	hypertelorism ³¹			HP:0000316
36	abnormality of the dentition ⁵⁸		Very frequent (99-80%)
37	hypoplastic nipples ³¹			HP:0002557
38	telangiectasia ³¹			HP:0001009

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
hypertelorism
telecanthus
epicanthal folds
myopia (in 2 of 3 siblings)

Abdomen External Features:
umbilical hernia

Head And Neck Ears:
low-set ears
hearing loss, sensorineural, severe to profound

Head And Neck Nose:
broad nasal root

Neurologic Central Nervous System:
mental retardation, mild to severe

Growth Height:
short stature (in 2 of 3 siblings)

Genitourinary External Genitalia Male:
bifid scrotum (in 1 of 3 siblings)
small phallus (in 1 of 3 siblings)

Genitourinary Kidneys:
hypoplastic kidneys (in 2 of 3 siblings)
proteinuria (in 2 of 3 siblings)
renal insufficiency (in 2 of 3 siblings)

Hematology:
pancytopenia (in 2 of 3 siblings)

Head And Neck Teeth:
dental malocclusion
abnormal teeth

Head And Neck Face:
micrognathia
malar hypoplasia

Chest Breasts:
hypoplastic nipples
widely spaced nipples

Head And Neck Mouth:
broad mouth
full lower lip

Skin Nails Hair Skin:
telangiectases

Head And Neck Head:
microcephaly (in 2 of 3 siblings)

Genitourinary Internal Genitalia Male:
cryptorchidism (in 1 of 3 siblings)
absence of the vas deferens and epididymis (in 1 of 3 siblings)

Endocrine Features:
hypothyroidism (in 1 of 3 siblings)

Clinical features from OMIM:

300519

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Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

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Genetic Tests for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Genetic tests related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

#	Genetic test	Affiliating Genes
1	Mental Retardation, X-Linked, Syndromic, Martin-Probst Type ²⁹

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Anatomical Context for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

⁴⁰

Eye, Kidney, Skin

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Publications for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Articles related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

#	Title	Authors	PMID	Year
1	Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome. ⁶	Oldak M...Ploski R	25044830	2014
2	Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report. ⁶	Lee J...Boles RG	24863632	2014
3	Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. ⁶	Bedoyan JK...Martin DM	22581972	2012
4	Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome. ⁵⁶	Probst FJ...Martin DM	15389700	2004
5	Characterisation and genetic mapping of a new X linked deafness syndrome. ⁵⁶	Martin DM...Petty EM	11073537	2000
6	Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. ⁶¹	Poloschek CM...Berger W	18487380	2008

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Genes for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Genes related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	RAB40AL	RAB40A Like	Protein Coding	327.37	Causative variation ⁷³ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
2	MRXSMP	Martin-Probst Deafness-Mental Retardation Syndrome	Genetic Locus	50	Genetic linkage ⁵⁶
3	LINC00630	Long Intergenic Non-Protein Coding RNA 630	RNA Gene	8.77	GeneCards inferred via : Variants (show sections)
4	ARMCX2	Armadillo Repeat Containing X-Linked 2	Protein Coding	7.23	DISEASES inferred ¹⁵
5	KCNE5	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 5	Protein Coding	6.58	DISEASES inferred ¹⁵
6	DIAPH2	Diaphanous Related Formin 2	Protein Coding	6.22	DISEASES inferred ¹⁵
7	POU3F4	POU Class 3 Homeobox 4	Protein Coding	5.91	DISEASES inferred ¹⁵
8	RAB40C	RAB40C, Member RAS Oncogene Family	Protein Coding	5.86	DISEASES inferred ¹⁵
9	SPIN3	Spindlin Family Member 3	Protein Coding	5.85	DISEASES inferred ¹⁵
10	TIMM8A	Translocase Of Inner Mitochondrial Membrane 8A	Protein Coding	5.79	DISEASES inferred ¹⁵

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Variations for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

⁶ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RAB40AL	NM_001031834.1(RAB40AL):c.177C>A (p.Asp59Glu)	SNV	Uncertain significance	518404	rs138133927	X:102192423-102192423	X:102937495-102937495
2	RAB40AL	NM_001031834.1(RAB40AL):c.176A>G (p.Asp59Gly)	SNV	Uncertain significance	37017	rs145606134	X:102192422-102192422	X:102937494-102937494
3	RAB40AL	NM_001031834.1(RAB40AL):c.775A>G (p.Ile259Val)	SNV	Benign	518405	rs61729484	X:102193021-102193021	X:102938093-102938093

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	RAB40AL	p.Asp59Gly	VAR_068916	rs145606134

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Expression for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type.

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Pathways for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

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GO Terms for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Biological processes related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Rab protein signal transduction	GO:0032482	8.62	RAB40C RAB40AL

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Sources for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

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 GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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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

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⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Mental Retardation, X-Linked, Syndromic, Martin-Probst Type (MRXSMP)

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Related Diseases for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Diseases related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Genetic Tests for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Genetic tests related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

Anatomical Context for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

Publications for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Articles related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

Genes for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Genes related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type (2 elite genes):

Variations for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

Expression for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Pathways for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

GO Terms for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Biological processes related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type according to GeneCards Suite gene sharing:

Sources for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type