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

MCID: MNT146 MIFTS: 29	Mental Retardation, X-Linked, Syndromic, Martin-Probst Type Categories: Genetic diseases, Neuronal diseases, Ear diseases, Fetal diseases, Rare diseases, Mental diseases
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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 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 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 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

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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 and kidney, and related phenotypes are cryptorchidism and bifid scrotum

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

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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:

#	Related Disease	Score
1	choroideremia	10.4
2	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.2
3	sensorineural hearing loss	10.2

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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)

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

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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	RAB40AL

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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:

⁴¹

Skin, Kidney

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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	Year
1	Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. ( 18487380 )	Poloschek C.M....Berger W.	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	438.71	Causative variation ⁷⁵ Genetic Tests ²⁹ 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	5.23	DISEASES inferred ¹⁵

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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.177C> A (p.Asp59Glu)	single nucleotide variant	Uncertain significance	rs138133927	GRCh37	Chromosome X, 102192423: 102192423
2	RAB40AL	NM_001031834.1(RAB40AL): c.177C> A (p.Asp59Glu)	single nucleotide variant	Uncertain significance	rs138133927	GRCh38	Chromosome X, 102937495: 102937495
3	RAB40AL	NM_001031834.1(RAB40AL): c.775A> G (p.Ile259Val)	single nucleotide variant	Benign	rs61729484	GRCh38	Chromosome X, 102938093: 102938093
4	RAB40AL	NM_001031834.1(RAB40AL): c.775A> G (p.Ile259Val)	single nucleotide variant	Benign	rs61729484	GRCh37	Chromosome X, 102193021: 102193021

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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

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