Intellectual disability-hypotonic facies syndrome, X-linked, 1

Preferred Label : Intellectual disability-hypotonic facies syndrome, X-linked, 1;

Symbol : MRXHF1;

CISMeF acronym : JMS; MRXHF1; SFMS; SFM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Smith-fineman-myers syndrome 1; Carpenter-waziri syndrome; SFMS; SFM1; Holmes-gang syndrome; Chudley-lowry syndrome; Xlmr-hypotonic facies syndrome; Mental retardation-hypotonic facies syndrome, X-linked, 1;

Description : 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.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutations in the helicase-2 gene (XH2, 300032.0011);

Prefixed ID : #309580;

Details

Origin ID

309580;

UMLS CUI

C4759781;

Automatic exact mappings (from CISMeF team)
- ATRX wt Allele [NCIt concept]
- Carpenter-Waziri syndrome [ICD-11 More detail]
- Holmes Gang syndrome (disorder) [SNOMED CT concept]
- Holmes-Gang syndrome [ICD-11 More detail]
- Holmes-Gang syndrome [ORDO Disease]
- Renier-Gabreels-Jasper syndrome [ORDO Disease]
- Smith-Fineman-Myers syndrome [ORDO Disease]
- Vasquez-Hurst-Sotos syndrome [ORDO Disease]
CISMeF manual mappings
- Carpenter Waziri syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Carpenter Waziri syndrome [Disease (Nov.)]
- Carpenter-Waziri syndrome [ORDO Disease]
- Chudley Lowry Hoar syndrome (disorder) [SNOMED CT concept]
- Chudley-Lowry-Hoar syndrome [ORDO Disease]
- Juberg-Marsidi syndrome [ORDO Disease]
- Juberg-Marsidi syndrome [ICD-11 More detail]
- Mental retardation-hypotonic facies syndrome, x-linked, 1 [MeSH concept]
- X-linked intellectual disability-hypotonic face syndrome [ORDO Disease]
- mental retardation-hypotonic facies syndrome, x-linked, 1 [MeSH Supplementary Concept]
False automatic mappings
- Jamaica [NCIt concept]
Genes related to phenotype
- Atrx chromatin remodeler [OMIM gene]
HPO term(s)
- Abnormality of blood and blood-forming tissues [HPO term]
- Anteverted nares [HPO term]
- Bitemporal narrowing [HPO term]
- Brachydactyly [HPO term]
- Clinodactyly [HPO term]
- Coarse facial features [HPO term]
- Constipation [HPO term]
- Cryptorchidism [HPO term]
- Decreased testicular size [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Dolichocephaly [HPO term]
- Drooling [HPO term]
- Epicanthus [HPO term]
- Exotropia [HPO term]
- Flat, broad nasal bridge [HPO term]
- Gastroesophageal reflux [HPO term]
- Gastrointestinal reflux [HPO term]
- Genu valgum [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperactivity [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Hypogonadism [HPO term]
- Hypoplastic philtrum [HPO term]
- Hypospadias [HPO term]
- Infantile muscular hypotonia [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Kyphoscoliosis [HPO term]
- Low-set ears [HPO term]
- Lower limb hypertonia [HPO term]
- Macroglossia [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Microtia [HPO term]
- Midface retrusion [HPO term]
- Narrow forehead [HPO term]
- Obesity [HPO term]
- Open mouth [HPO term]
- Optic atrophy [HPO term]
- Paroxysmal bursts of laughter [HPO term]
- Pes planus [HPO term]
- Posteriorly rotated ears [HPO term]
- Protruding tongue [HPO term]
- Ptosis [HPO term]
- Radial deviation of finger [HPO term]
- Renal hypoplasia [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Short upper lip [HPO term]
- Slender finger [HPO term]
- Slender, tapering fingers [HPO term]
- Small scrotum [HPO term]
- Talipes calcaneovalgus [HPO term]
- Talipes equinovarus [HPO term]
- Tapered finger [HPO term]
- Tented upper lip vermilion [HPO term]
- Thick lower lip vermilion [HPO term]
- Thin upper lip vermilion [HPO term]
- Triangular nasal tip [HPO term]
- U-Shaped upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- Vesicoureteral reflux [HPO term]
- Vomiting [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
- Widely-spaced maxillary central incisors [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Alpha-thalassemia-X-linked intellectual disability syndrome [ORDO Disease]
- Carpenter-Waziri syndrome [ORDO Disease]
- Chudley-Lowry-Hoar syndrome [ORDO Disease]
- Holmes-Gang syndrome [ORDO Disease]
- Juberg-Marsidi syndrome [ORDO Disease]
- Renier-Gabreels-Jasper syndrome [ORDO Disease]
- Smith-Fineman-Myers syndrome [ORDO Disease]
- Vasquez-Hurst-Sotos syndrome [ORDO Disease]
- X-linked intellectual disability-hypotonic face syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carpenter Waziri syndrome (disorder) [SNOMED CT concept]
- Chudley Lowry Hoar syndrome (disorder) [SNOMED CT concept]
- Chudley-Lowry-Hoar syndrome [ORDO Disease]
- Holmes Gang syndrome (disorder) [SNOMED CT concept]
- Holmes-Gang syndrome [ORDO Disease]
- Juberg Marsidi syndrome (disorder) [SNOMED CT concept]
- Juberg-Marsidi syndrome [ORDO Disease]
- Mental retardation-hypotonic facies syndrome, x-linked, 1 [MeSH concept]
- X-linked intellectual disability-hypotonic face syndrome [ORDO Disease]
- mental retardation-hypotonic facies syndrome, x-linked, 1 [MeSH Supplementary Concept]

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