MCID: MNT061
MIFTS: 37

Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Ear diseases, Mental diseases

Aliases & Classifications for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

MalaCards integrated aliases for Mental Retardation-Hypotonic Facies Syndrome, X-Linked:

Name: Mental Retardation-Hypotonic Facies Syndrome, X-Linked 54 24 13
Juberg-Marsidi Syndrome 50 24 56 71 52 69
Carpenter-Waziri Syndrome 50 24 56 71
Holmes-Gang Syndrome 50 24 56 71
Chudley-Lowry Syndrome 24 56 71
Mental Retardation, X-Linked, with Growth Retardation, Deafness, and Microgenitalism 50 24
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 50 29
Smith-Fineman-Myers Syndrome 1 24 71
Sfm1 50 71
Jms 50 71
Mental Retardation X-Linked with Growth Retardation Deafness and Microgenitalism 71
Mental Retradation, X-Linked with Growth Delay, Deafness, Microgenitalism 50
Mental Retardation, X-Linked, Syndromic, with Hypotonic Facies 1 71
X-Linked Hypogonadism Gynecomastia Mental Retardation 50
Mental Retardation Smith Fineman Myers Type 69
Juberg-Marsidi Mental Retardation Syndrome 50
Chudley Mental Retardation Syndrome 50
Renier-Gabreels-Jasper Syndrome 56
Smith Fineman Myers Syndrome 1 50
Xlmr-Hypotonic Facies Syndrome 71
Smith-Fineman-Myers Syndrome 56
Chudley Lowry Hoar Syndrome 50
Chudley-Lowry-Hoar Syndrome 56
Juberg Marsidi Syndrome 50
Chudley Syndrome 1 50
Mrxshf1 71
Mrxhf1 50
Sfms 71
Cws 71

Characteristics:

Orphanet epidemiological data:

56
renier-gabreels-jasper syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
smith-fineman-myers syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
chudley-lowry-hoar syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
holmes-gang syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;
carpenter-waziri syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
juberg-marsidi syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Miscellaneous:
variable phenotype
alpha-thalassemia/mental retardation syndrome is an allelic disorder

Inheritance:
x-linked recessive


HPO:

32
mental retardation-hypotonic facies syndrome, x-linked:
Onset and clinical course phenotypic variability
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 93972disease definitionjuberg-marsidi syndrome is an x-linked mental retardation (xlmr) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (mental retardation, x-linked-hypotonic facies; see this term).epidemiologyprevalence is unknown but since its initial description in 1980 several unrelated families with affected males have been reported.clinical descriptionthe syndrome is characterised by facial dysmorphism (a flat and broad nasal bridge, prominent forehead, upslanting palpebral fissures, hypertelorism and various ear anomalies), growth failure, sensorineural deafness, microgenitalism and severe intellectual deficit.etiologythe syndrome is caused by mutations in the atrx gene (xq13.3).genetic counselinginheritance is x-linked recessive.visit the orphanet disease page for more resources. last updated: 5/22/2008

MalaCards based summary : Mental Retardation-Hypotonic Facies Syndrome, X-Linked, also known as juberg-marsidi syndrome, is related to renier gabreels jasper syndrome and mental retardation smith fineman myers type, and has symptoms including short stature, macroglossia and brachydactyly. An important gene associated with Mental Retardation-Hypotonic Facies Syndrome, X-Linked is ATRX (ATRX, Chromatin Remodeler). Affiliated tissues include testes, bone and tongue.

UniProtKB/Swiss-Prot : 71 Mental retardation, X-linked, syndromic, with hypotonic facies 1: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSHF1 is a syndromic mental retardation. Clinical features include severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women. Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.

OMIM : 54
The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects. X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; 301040) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes. (309580)

Related Diseases for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Diseases related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
id Related Disease Score Top Affiliating Genes
1 renier gabreels jasper syndrome 12.4
2 mental retardation smith fineman myers type 11.6
3 x-linked mental retardation craniofacial abnormal microcephaly club 11.1
4 schimmelpenning-feuerstein-mims syndrome, somatic mosaic 11.1
5 psoriasis 10.2
6 alpha-thalassemia/mental retardation syndrome 10.1
7 thalassemia 10.1
8 chronic interstitial cystitis 10.0
9 arthritis 9.9
10 melanoma 9.9
11 rhabdomyosarcoma 9.9
12 psoriatic arthritis 9.9
13 endotheliitis 9.9
14 sarcoma 9.8
15 hematopoietic stem cell transplantation 9.8
16 hiv-1 9.8
17 embryonal rhabdomyosarcoma 9.8
18 soft tissue sarcoma 9.8
19 epispadias 9.8
20 vesicoureteral reflux 9.8
21 gastrointestinal stromal tumor 9.8
22 myocardial infarction 9.8
23 chronic pain 9.8
24 hepatitis 9.7
25 idiopathic inflammatory myopathy 9.7
26 myopathy 9.7
27 inflammatory bowel disease 9.7
28 lymphoma 9.7
29 chondrosarcoma 9.5
30 colitis 9.5
31 myositis 9.5
32 pleuropulmonary blastoma 9.5
33 blastoma 9.5
34 spondylitis 9.5
35 menkes disease 9.5
36 periodontitis 9.5
37 respiratory failure 9.5
38 lupus erythematosus 9.5
39 c2 deficiency 9.5
40 hepatitis c 9.5
41 meniere's disease 9.5
42 crohn's disease 9.5
43 cervicitis 9.5
44 acute graft versus host disease 9.5
45 severe acute respiratory syndrome 9.5
46 guttate psoriasis 9.5
47 hepatitis b 9.5
48 malignant ectomesenchymoma 9.5
49 lymphoblastic lymphoma 9.5
50 ectomesenchymoma 9.5

Graphical network of the top 20 diseases related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked:



Diseases related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Symptoms & Phenotypes for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Nose:
anteverted nostrils
depressed nasal bridge
flat, broad nasal bridge
triangular nasal tip

Skeletal- Hands:
brachydactyly
slender, tapering fingers
clinodactyly of isolated digits

Neurologic- Central Nervous System:
hyperreflexia
seizures (in 35%)
mental retardation, severe, profound
hypotonia, early
hypertonia of lower limbs, later

Head And Neck- Head:
microcephaly
dolichocephaly

Head And Neck- Face:
micrognathia
coarse facial features
midface hypoplasia
bitemporal narrowing
small philtrum

Abdomen- Gastroin testinal:
vomiting
gastroesophageal reflux
constipation
gut dysmotility

Skeletal- Feet:
talipes equinovarus
pes planus
talipes calcaneovalgus

Skeletal- Limbs:
genua valga

Growth- Weight:
obesity, mild (rare)

Genitourinary- Kidneys:
renal hypoplasia (less common)

Skeletal- Spine:
kyphoscoliosis (approximately 30%)

Head And Neck- Mouth:
high-arched palate
open mouth
macrostomia
protruding tongue
drooling
more
Skeletal:
delayed bone age

Head And Neck- Eyes:
optic atrophy
ptosis
epicanthal folds
hypertelorism
upslanting palpebral fissures
more
Growth- Other:
growth retardation

Head And Neck- Ears:
low-set ears
posteriorly rotated ears
small ears
everted ears
hyperfolded ears
more
Genitourinary- External Genitalia Male:
micropenis
hypospadias
small testes
hypogonadism
hypoplastic scrotum

Genitourinary- Internal Genitalia Male:
cryptorchidism

Neurologic- Behavioral Psychiatric Manifestations:
hyperactivity
paroxysmal bursts of laughter
repetitive, self-stimulatory behavior using upper limbs
fingers in mouth
self-absorbed

Head And Neck- Teeth:
widely-spaced upper incisors

Head And Neck- Neck:
short neck (less common)

Genitourinary- Bladder:
vesicoureteral reflux (less common)

Hematology:
absence of hb h inclusions in red blood cells


Clinical features from OMIM:

309580

Human phenotypes related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked:

32 (show top 50) (show all 65)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 macroglossia 32 HP:0000158
3 brachydactyly 32 HP:0001156
4 optic atrophy 32 HP:0000648
5 wide mouth 32 HP:0000154
6 intellectual disability, severe 32 HP:0010864
7 hyperreflexia 32 HP:0001347
8 seizures 32 very rare (1%) HP:0001250
9 ptosis 32 HP:0000508
10 microcephaly 32 HP:0000252
11 low-set ears 32 HP:0000369
12 micrognathia 32 HP:0000347
13 depressed nasal bridge 32 HP:0005280
14 micropenis 32 HP:0000054
15 coarse facial features 32 HP:0000280
16 hypertelorism 32 HP:0000316
17 hypospadias 32 HP:0000047
18 kyphoscoliosis 32 HP:0002751
19 posteriorly rotated ears 32 HP:0000358
20 anteverted nares 32 HP:0000463
21 vomiting 32 HP:0002013
22 gastroesophageal reflux 32 HP:0002020
23 cryptorchidism 32 HP:0000028
24 genu valgum 32 HP:0002857
25 talipes equinovarus 32 HP:0001762
26 short neck 32 HP:0000470
27 hyperactivity 32 HP:0000752
28 wide nasal bridge 32 HP:0000431
29 open mouth 32 HP:0000194
30 constipation 32 HP:0002019
31 vesicoureteral reflux 32 HP:0000076
32 hypogonadism 32 HP:0000135
33 midface retrusion 32 HP:0011800
34 renal hypoplasia 32 HP:0000089
35 narrow forehead 32 HP:0000341
36 pes planus 32 HP:0001763
37 high palate 32 HP:0000218
38 scrotal hypoplasia 32 HP:0000046
39 dolichocephaly 32 HP:0000268
40 epicanthus 32 HP:0000286
41 protruding tongue 32 HP:0010808
42 drooling 32 HP:0002307
43 microtia 32 HP:0008551
44 delayed skeletal maturation 32 HP:0002750
45 sensorineural hearing impairment 32 HP:0000407
46 malar flattening 32 HP:0000272
47 exotropia 32 HP:0000577
48 short upper lip 32 HP:0000188
49 thin upper lip vermilion 32 HP:0000219
50 thick lower lip vermilion 32 HP:0000179

UMLS symptoms related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked:


constipation, vomiting

Drugs & Therapeutics for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Search Clinical Trials , NIH Clinical Center for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Genetic Tests for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Genetic tests related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked:

id Genetic test Affiliating Genes
1 Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 29
2 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 24 ATRX

Anatomical Context for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

MalaCards organs/tissues related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked:

39
Testes, Bone, Tongue

Publications for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Variations for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation-Hypotonic Facies Syndrome, X-Linked:

71
id Symbol AA change Variation ID SNP ID
1 ATRX p.Arg2131Gln VAR_001240
2 ATRX p.Ile2050Thr VAR_012127
3 ATRX p.Cys220Tyr VAR_032625
4 ATRX p.Leu409Ser VAR_032626
5 ATRX p.Arg2271Gly VAR_032627

ClinVar genetic disease variations for Mental Retardation-Hypotonic Facies Syndrome, X-Linked:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ATRX NM_000489.4(ATRX): c.6392G> A (p.Arg2131Gln) single nucleotide variant Pathogenic rs122445101 GRCh37 Chromosome X, 76814252: 76814252
2 ATRX NM_000489.4(ATRX): c.5131C> T (p.Pro1711Ser) single nucleotide variant Pathogenic rs122445102 GRCh37 Chromosome X, 76888698: 76888698
3 ATRX NM_000489.4(ATRX): c.568C> G (p.Pro190Ala) single nucleotide variant Pathogenic/Likely pathogenic rs122445103 GRCh37 Chromosome X, 76944337: 76944337
4 ATRX ATRX, IVS34, A-G, -2 single nucleotide variant Pathogenic
5 ATRX NM_000489.4(ATRX): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs122445108 GRCh37 Chromosome X, 76972632: 76972632
6 ATRX NM_000489.4(ATRX): c.1226T> C (p.Leu409Ser) single nucleotide variant Pathogenic rs122445109 GRCh37 Chromosome X, 76939522: 76939522
7 ATRX NM_000489.4(ATRX): c.6149T> C (p.Ile2050Thr) single nucleotide variant Pathogenic/Likely pathogenic rs122445110 GRCh37 Chromosome X, 76845372: 76845372
8 ATRX NM_000489.4(ATRX): c.659G> A (p.Cys220Tyr) single nucleotide variant Pathogenic rs122445111 GRCh37 Chromosome X, 76940434: 76940434
9 ATRX NM_000489.4(ATRX): c.6811A> G (p.Arg2271Gly) single nucleotide variant Pathogenic rs122445112 GRCh37 Chromosome X, 76778768: 76778768

Expression for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Search GEO for disease gene expression data for Mental Retardation-Hypotonic Facies Syndrome, X-Linked.

Pathways for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

GO Terms for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Sources for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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