ALAZS
MCID: ALZ030
MIFTS: 30

Alazami Syndrome (ALAZS)

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

Aliases & Classifications for Alazami Syndrome

MalaCards integrated aliases for Alazami Syndrome:

Name: Alazami Syndrome 57 59 75 29 13 6 40 73
Alazs 57 75
Facial Dysmorphism, Intellectual Disability, and Primordial Dwarfism 57
Facial Dysmorphism Intellectual Disability and Primordial Dwarfism 75
Microcephalic Primordial Dwarfism, Alazami Type 59

Characteristics:

Orphanet epidemiological data:

59
microcephalic primordial dwarfism, alazami type
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
alazami syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Alazami Syndrome

UniProtKB/Swiss-Prot : 75 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 isolated growth hormone deficiency, type ia and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Alazami Syndrome is LARP7 (La Ribonucleoprotein Domain Family Member 7), and among its related pathways/superpathways is Cell Differentiation - Index. Affiliated tissues include eye and myeloid, and related phenotypes are malar flattening and low-set ears

Description from OMIM: 615071

Related Diseases for Alazami Syndrome

Diseases related to Alazami Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type ia 10.4
2 alacrima, achalasia, and mental retardation syndrome 10.4
3 dwarfism 10.4
4 oral squamous cell carcinoma 9.9 MIR302A MIR367
5 testicular germ cell tumor 9.8 MIR302D MIR367
6 leukemia, acute myeloid 9.8 MIR302D MIR367
7 melanoma 9.6 MIR302A MIR302D

Graphical network of the top 20 diseases related to Alazami Syndrome:



Diseases related to Alazami Syndrome

Symptoms & Phenotypes for Alazami Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Skeletal Spine:
scoliosis

Head And Neck Mouth:
wide mouth
short philtrum
macrostomia
full lips

Head And Neck Face:
malar hypoplasia

Growth Weight:
low weight (<3.5 sd below the mean)

Skeletal Hands:
epiphyseal changes in the proximal phalanges, mild

Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
unstable gait

Head And Neck Nose:
wide nasal bridge
broad nose
flat nasal bridge

Head And Neck Eyes:
deep-set eyes

Growth Height:
short stature (<3.5 sd below the mean)

Head And Neck Head:
microcephaly (<3.5 sd below the mean)


Clinical features from OMIM:

615071

Human phenotypes related to Alazami Syndrome:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 low-set ears 32 HP:0000369
3 scoliosis 32 HP:0002650
4 global developmental delay 32 HP:0001263
5 depressed nasal bridge 32 HP:0005280
6 wide nasal bridge 32 HP:0000431
7 thick vermilion border 32 HP:0012471
8 microcephaly 32 HP:0000252
9 intellectual disability, severe 32 HP:0010864
10 wide mouth 32 HP:0000154
11 short philtrum 32 HP:0000322
12 deeply set eye 32 HP:0000490
13 severe short stature 32 HP:0003510
14 decreased body weight 32 HP:0004325
15 wide nose 32 HP:0000445

Drugs & Therapeutics for Alazami Syndrome

Search Clinical Trials , NIH Clinical Center for Alazami Syndrome

Genetic Tests for Alazami Syndrome

Genetic tests related to Alazami Syndrome:

# Genetic test Affiliating Genes
1 Alazami Syndrome 29 LARP7

Anatomical Context for Alazami Syndrome

MalaCards organs/tissues related to Alazami Syndrome:

41
Eye, Myeloid

Publications for Alazami Syndrome

Articles related to Alazami Syndrome:

# Title Authors Year
1
Novel compound heterozygous variants in the <i>LARP7</i> gene in a patient with Alazami syndrome. ( 29619239 )
2018
2
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters. ( 30006060 )
2018
3
Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency. ( 27766953 )
2016
4
Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability. ( 26374271 )
2015

Variations for Alazami Syndrome

ClinVar genetic disease variations for Alazami Syndrome:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 LARP7 NM_015454.2(LARP7): c.1024_1030dupAAGGATA (p.Thr344Lysfs) duplication Pathogenic rs1057519017 GRCh38 Chromosome 4, 112647716: 112647722
2 LARP7 NM_015454.2(LARP7): c.1024_1030dupAAGGATA (p.Thr344Lysfs) duplication Pathogenic rs1057519017 GRCh37 Chromosome 4, 113568872: 113568878
3 LARP7 LARP7, LYS276fs undetermined variant Pathogenic
4 LARP7 NM_015454.1(LARP7): c.802_1142+267del deletion Pathogenic GRCh38 Chromosome 4, 112647354: 112648101
5 LARP7 NM_015454.1(LARP7): c.802_1142+267del deletion Pathogenic GRCh37 Chromosome 4, 113568510: 113569257
6 LARP7 NM_015454.2(LARP7): c.213_214dupAT (p.Ser72Tyrfs) duplication Pathogenic rs1057519297 GRCh37 Chromosome 4, 113567517: 113567518
7 LARP7 NM_015454.2(LARP7): c.213_214dupAT (p.Ser72Tyrfs) duplication Pathogenic rs1057519297 GRCh38 Chromosome 4, 112646361: 112646362
8 LARP7 NM_015454.2(LARP7): c.651_655delGAAGA (p.Lys219Glufs) deletion Pathogenic rs1057519298 GRCh38 Chromosome 4, 112647203: 112647207
9 LARP7 NM_015454.2(LARP7): c.651_655delGAAGA (p.Lys219Glufs) deletion Pathogenic rs1057519298 GRCh37 Chromosome 4, 113568359: 113568363
10 LARP7 NM_001267039.1(LARP7): c.573+31A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 113568142: 113568142
11 LARP7 NM_001267039.1(LARP7): c.573+31A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 112646986: 112646986
12 LARP7 NM_015454.2(LARP7): c.503_504dup (p.Ala169Leufs) duplication Pathogenic GRCh37 Chromosome 4, 113568062: 113568063
13 LARP7 NM_015454.2(LARP7): c.503_504dup (p.Ala169Leufs) duplication Pathogenic GRCh38 Chromosome 4, 112646906: 112646907

Expression for Alazami Syndrome

Search GEO for disease gene expression data for Alazami Syndrome.

Pathways for Alazami Syndrome

Pathways related to Alazami Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.2 MIR302A MIR302D

GO Terms for Alazami Syndrome

Cellular components related to Alazami Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 micro-ribonucleoprotein complex GO:0035068 8.8 MIR302A MIR302D MIR367

Biological processes related to Alazami Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gene silencing by miRNA GO:0035195 8.8 MIR302A MIR302D MIR367

Sources for Alazami Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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