ALAZS
MCID: ALZ030
MIFTS: 35
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Alazami Syndrome (ALAZS)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Alazami Syndrome:
Characteristics:Orphanet epidemiological data:58
microcephalic primordial dwarfism, alazami type
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Bone diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Alazami syndrome: A syndromic form of primordial dwarfism, a condition characterized by severe growth restriction that has its onset in utero, and results in short stature and undersize. ALAZS patients manifest severe intellectual disability and distinct facial features including malar hypoplasia, deep-set eyes, broad nose, short philtrum, and macrostomia. Some patients have non-specific and inconsistent skeletal findings, for example, scoliosis and mild epiphyseal changes in the proximal phalanges, but no frank dysplasia.
MalaCards based summary : Alazami Syndrome, also known as alazs, is related to alazami-yuan syndrome and isolated growth hormone deficiency, type ia. An important gene associated with Alazami Syndrome is LARP7 (La Ribonucleoprotein 7, Transcriptional Regulator). Affiliated tissues include eye, skin and bone, and related phenotypes are widely spaced teeth and intellectual disability, severe OMIM : 56 Alazami syndrome is an autosomal recessive disorder characterized by severe growth restriction present at birth, severely impaired intellectual development, and distinctive facial features. Some patients have been reported with skeletal and behavioral features (summary by Imbert-Bouteille et al., 2019). (615071) KEGG : 36 Alazami syndrome is an autosomal recessive disease characterized by primordial dwarfism, distinct dysmorphic features, and severe intellectual disability. Mutations in LARP7, chaperone of 7SK ncRNA, cause this syndrome. |
Diseases related to Alazami Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 13)
Graphical network of the top 20 diseases related to Alazami Syndrome:![]() |
Human phenotypes related to Alazami Syndrome:58 31 (show all 38)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615071 |
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MalaCards organs/tissues related to Alazami Syndrome:40
Eye,
Skin,
Bone,
Brain,
Thyroid
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Articles related to Alazami Syndrome:(show all 13)
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ClinVar genetic disease variations for Alazami Syndrome:6 (show all 12)
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Search
GEO
for disease gene expression data for Alazami Syndrome.
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Biological processes related to Alazami Syndrome according to GeneCards Suite gene sharing:
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