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

MRXSMP MCID: MNT146 MIFTS: 30	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

Sources

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 ⁵⁷ ¹² ⁷⁵ ²⁹ ¹³ ⁶ ⁴⁰

Martin-Probst Deafness-Mental Retardation Syndrome ⁵⁷ ⁷⁵ ⁷³

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

Martin-Probst Syndrome ¹² ⁵⁹

Mrxsmp ⁵⁷ ⁷⁵

Deafness-Intellectual Disability Syndrome, Martin-Probst Type ⁵⁹

X-Linked Deafness-Intellectual Disability Syndrome Syndrome ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
x-linked recessive

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

HPO:

³²

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: ³³ ³⁴

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: ⁵⁹

Rare neurological diseases

Rare eye diseases

Rare otorhinolaryngological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 300519

Disease Ontology ¹² DOID:0060830

ICD10 ³³ Q87.8

Orphanet ⁵⁹ ORPHA85321

ICD10 via Orphanet ³⁴ Q87.8

UMLS via Orphanet ⁷⁴ C1845285

MedGen ⁴² C1845285

MeSH ⁴⁴ D038901

SNOMED-CT via HPO ⁶⁹ 204878001 236780002 34911001 more

UMLS ⁷³ C1845285

Sources

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

UniProtKB/Swiss-Prot : ⁷⁵ 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 choroideremia and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Mental Retardation, X-Linked, Syndromic, Martin-Probst Type is RAB40AL (RAB40A Like). Affiliated tissues include skin, kidney and eye, and related phenotypes are malar flattening and low-set ears

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.

Description from OMIM: 300519

Sources

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:

#	Related Disease	Score
1	choroideremia	10.5
2	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.3
3	sensorineural hearing loss	10.3

Sources

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Head And Neck Teeth:
dental malocclusion
abnormal teeth

Head And Neck Face:
micrognathia
malar hypoplasia

Head And Neck Nose:
broad nasal root

Neurologic Central Nervous System:
mental retardation, mild to severe

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)

Skin Nails Hair Skin:
telangiectasias

Hematology:
pancytopenia (in 2 of 3 siblings)

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

Abdomen External Features:
umbilical hernia

Chest Breasts:
hypoplastic nipples
widely spaced nipples

Head And Neck Mouth:
broad mouth
full lower lip

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)

Endocrine Features:
hypothyroidism (in 1 of 3 siblings)

Clinical features from OMIM:

300519

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

⁵⁹ ³² (show all 38)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	malar flattening ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000272
2	low-set ears ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000369
3	hypothyroidism ⁵⁹ ³²	occasional (7.5%)	Frequent (79-30%)	HP:0000821
4	cataract ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000518
5	dental malocclusion ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000689
6	wide nasal bridge ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000431
7	umbilical hernia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001537
8	microcephaly ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000252
9	sensorineural hearing impairment ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000407
10	short stature ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0004322
11	renal insufficiency ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000083
12	intellectual disability, severe ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0010864
13	micrognathia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000347
14	pancytopenia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001876
15	thick lower lip vermilion ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000179
16	epicanthus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000286
17	everted lower lip vermilion ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000232
18	cryptorchidism ⁵⁹ ³²	occasional (7.5%)	Frequent (79-30%)	HP:0000028
19	wide intermamillary distance ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0006610
20	aplasia/hypoplasia of the nipples ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0006709
21	abnormal dermatoglyphics ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007477
22	myopia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000545
23	telecanthus ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000506
24	intellectual disability, moderate ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002342
25	wide mouth ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000154
26	telangiectasia of the skin ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0100585
27	renal hypoplasia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000089
28	hypoplasia of penis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0008736
29	blepharophimosis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000581
30	bifid scrotum ⁵⁹ ³²	occasional (7.5%)	Frequent (79-30%)	HP:0000048
31	renal dysplasia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000110
32	hypertelorism ³²			HP:0000316
33	intellectual disability ³²			HP:0001249
34	abnormality of the dentition ⁵⁹		Very frequent (99-80%)
35	proteinuria ³²	frequent (33%)		HP:0000093
36	micropenis ³²	occasional (7.5%)		HP:0000054
37	hypoplastic nipples ³²			HP:0002557
38	telangiectasia ³²			HP:0001009

Sources

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

Sources

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

Sources

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

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

⁴¹

Skin, Kidney, Eye

Sources

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

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

#	Title	Authors	Year
1	Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. ( 18487380 )		2008

Sources

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	338.75	Causative variation ⁷⁵ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
2	MRXSMP	Martin-Probst Deafness-Mental Retardation Syndrome	Genetic Locus	50	Genetic linkage ⁵⁷
3	BHLHE22	Basic Helix-Loop-Helix Family Member E22	Protein Coding	5.14	DISEASES inferred ¹⁵

Sources

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:

⁷⁵

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

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

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	RAB40AL	NM_001031834.1(RAB40AL): c.176A> G (p.Asp59Gly)	single nucleotide variant	Uncertain significance	rs145606134	GRCh37	Chromosome X, 102192422: 102192422
2	RAB40AL	NM_001031834.1(RAB40AL): c.176A> G (p.Asp59Gly)	single nucleotide variant	Uncertain significance	rs145606134	GRCh38	Chromosome X, 102937494: 102937494
3	RAB40AL	NM_001031834.1(RAB40AL): c.177C> A (p.Asp59Glu)	single nucleotide variant	Uncertain significance	rs138133927	GRCh37	Chromosome X, 102192423: 102192423
4	RAB40AL	NM_001031834.1(RAB40AL): c.177C> A (p.Asp59Glu)	single nucleotide variant	Uncertain significance	rs138133927	GRCh38	Chromosome X, 102937495: 102937495
5	RAB40AL	NM_001031834.1(RAB40AL): c.775A> G (p.Ile259Val)	single nucleotide variant	Benign	rs61729484	GRCh38	Chromosome X, 102938093: 102938093
6	RAB40AL	NM_001031834.1(RAB40AL): c.775A> G (p.Ile259Val)	single nucleotide variant	Benign	rs61729484	GRCh37	Chromosome X, 102193021: 102193021

Sources

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.

Sources

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

Sources

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

Sources

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 ExPASy

¹⁸ FDA Approved Drugs

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

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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:

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

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

ClinVar 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

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