MASA syndrome

MASA syndrome: MASA syndrome

Classification and external resources

OMIM 303350

MASA syndrome, also called CRASH syndrome and Gareis-Mason syndrome,^[1] is a rare X-linked recessive^[2] neurological disorder.

The acronym "MASA" describes the four major symptoms - Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs.^[3] The disorder has been associated with mutations in the L1CAM gene.^[4] (The term "CRASH", for "corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus" has also been used to describe L1CAM-related disorders.)^[5]

References

^ Online 'Mendelian Inheritance in Man' (OMIM) 303350

^ Winter RM, D. K. (July 1989). "MASA syndrome: further clinical delineation and chromosomal localisation". Human Genetics 82 (4): 367–370. PMID 2737668. edit

^ Bianchine JW, Lewis RC (1974). "The MASA syndrome: a new heritable mental retardation syndrome". Clin. Genet. 5 (4): 298–306. doi:10.1111/j.1399-0004.1974.tb01697.x. PMID 4855169.

^ Ruiz JC, Cuppens H, Legius E, et al. (July 1995). "Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS". Journal of medical genetics 32 (7): 549–52. doi:10.1136/jmg.32.7.549. PMC 1050549. PMID 7562969. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1050549.

^ Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ (1995). "CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1". European Journal of Human Genetics 3 (5): 273–84. PMID 8556302.

External links

MASA syndrome at NIH's Office of Rare Diseases

GeneReview/NIH/UW entry on L1 Syndrome

v · d · eSex linkage: X-linked disorders

X-linked recessive

Immune
Chronic granulomatous disease (CYBB) · Wiskott–Aldrich syndrome · X-linked severe combined immunodeficiency · X-linked agammaglobulinemia · Hyper-IgM syndrome type 1 · IPEX · X-linked lymphoproliferative disease · Properdin deficiency

Hematologic
Haemophilia A · Haemophilia B · X-linked sideroblastic anemia

Endocrine
Androgen insensitivity syndrome/Kennedy disease · KAL1 Kallmann syndrome · X-linked adrenal hypoplasia congenita

Metabolic

amino acid: Ornithine transcarbamylase deficiency · Oculocerebrorenal syndrome

dyslipidemia: Adrenoleukodystrophy

carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency · Pyruvate dehydrogenase deficiency · Danon disease/glycogen storage disease Type IIb

lipid storage disorder: Fabry's disease

mucopolysaccharidosis: Hunter syndrome

purine-pyrimidine metabolism: Lesch–Nyhan syndrome
mineral: Menkes disease/Occipital horn syndrome

Nervous system

X-Linked mental retardation: Coffin–Lowry syndrome · MASA syndrome · X-linked alpha thalassemia mental retardation syndrome · Siderius X-linked mental retardation syndrome

eye disorders: Color blindness (red and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia
other: Charcot–Marie–Tooth disease (CMTX2-3) · Pelizaeus–Merzbacher disease · SMAX2

Skin and related tissue

Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) ·
X-linked ichthyosis · X-linked endothelial corneal dystrophy

Neuromuscular
Becker's muscular dystrophy/Duchenne · Centronuclear myopathy (MTM1) · Conradi–Hünermann syndrome · Emery–Dreifuss muscular dystrophy 1

Urologic
Alport syndrome · Dent's disease · X-linked nephrogenic diabetes insipidus

Bone/tooth
AMELX Amelogenesis imperfecta

No primary system
Barth syndrome · McLeod syndrome · Smith-Fineman-Myers syndrome · Simpson–Golabi–Behmel syndrome · Mohr–Tranebjærg syndrome · Nasodigitoacoustic syndrome

X-linked dominant

X-linked hypophosphatemia · Focal dermal hypoplasia · Fragile X syndrome · Aicardi syndrome · Incontinentia pigmenti · Rett syndrome · CHILD syndrome · Lujan–Fryns syndrome · Orofaciodigital syndrome 1

Categories:
X-linked recessive disorders
Rare diseases
Syndromes
Genetic disorder stubs

MASA syndrome
Classification and external resources
OMIM	303350

Игры ⚽ Поможем написать курсовую

Look at other dictionaries:

MASA syndrome — MASA stands for mental retardation, aphasia, shuffling gait, and adducted thumbs. Features of the syndrome include: {{}}neurologically: mental retardation and aphasia (lack of speech); limbs: adducted (clasped) thumbs, absent extensor pollicis… … Medical dictionary
Syndrome, MASA — MASA stands for mental retardation, aphasia, shuffling gait, and adducted thumbs. Features of the syndrome include (1) neurologically: mental retardation and aphasia (lack of speech); (2) limbs: adducted (clasped) thumbs, absent extensor pollicis … Medical dictionary
MASA — • Medical Association of South Africa; • mental retardation aphasia shuffling gait adducted thumbs [syndrome]; • mutant allele specific amplification … Dictionary of medical acronyms & abbreviations
Androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 E … Wikipedia
Fragile X syndrome — Classification and external resources Location of FMR1 gene ICD 10 Q99.2 … Wikipedia
Rett syndrome — Classification and external resources ICD 10 F84.2 ICD 9 330.8 … Wikipedia
Complete androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 … Wikipedia
Mild androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 E … Wikipedia
Partial androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 … Wikipedia
Oculocerebrorenal syndrome — Classification and external resources ICD 10 E72.0 ICD 9 270.8 … Wikipedia

Academic Dictionaries and Encyclopedias

MASA syndrome

References

External links

Look at other dictionaries:

Share the article and excerpts

Academic Dictionaries and Encyclopedias

Wikipedia

MASA syndrome

References

External links

Look at other dictionaries:

Share the article and excerpts

Direct link