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 58 60 76 38 30 13 6 41 74
Alazs 58 76
Facial Dysmorphism, Intellectual Disability, and Primordial Dwarfism 58
Facial Dysmorphism Intellectual Disability and Primordial Dwarfism 76
Microcephalic Primordial Dwarfism, Alazami Type 60

Characteristics:

Orphanet epidemiological data:

60
microcephalic primordial dwarfism, alazami type
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
alazami syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Alazami Syndrome

UniProtKB/Swiss-Prot : 76 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 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 testicular germ cell tumor 9.7 MIR302D MIR367
5 leukemia, acute myeloid 9.6 MIR302D MIR367
6 oral squamous cell carcinoma 9.3 MIR302A MIR302B MIR367
7 melanoma 9.1 MIR302A MIR302B MIR302C MIR302D

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



Diseases related to Alazami Syndrome

Symptoms & Phenotypes for Alazami Syndrome

Human phenotypes related to Alazami Syndrome:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 low-set ears 33 HP:0000369
3 scoliosis 33 HP:0002650
4 global developmental delay 33 HP:0001263
5 depressed nasal bridge 33 HP:0005280
6 wide nasal bridge 33 HP:0000431
7 thick vermilion border 33 HP:0012471
8 microcephaly 33 HP:0000252
9 intellectual disability, severe 33 HP:0010864
10 wide mouth 33 HP:0000154
11 short philtrum 33 HP:0000322
12 deeply set eye 33 HP:0000490
13 severe short stature 33 HP:0003510
14 decreased body weight 33 HP:0004325
15 wide nose 33 HP:0000445

Symptoms via clinical synopsis from OMIM:

58
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

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 30 LARP7

Anatomical Context for Alazami Syndrome

MalaCards organs/tissues related to Alazami Syndrome:

42
Eye

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 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 LARP7 NM_015454.1(LARP7): c.802_1142+267del deletion Pathogenic rs1554011754 GRCh38 Chromosome 4, 112647354: 112648101
2 LARP7 NM_015454.1(LARP7): c.802_1142+267del deletion Pathogenic rs1554011754 GRCh37 Chromosome 4, 113568510: 113569257
3 LARP7 NM_015454.2(LARP7): c.1024_1030dupAAGGATA (p.Thr344Lysfs) duplication Pathogenic rs1057519017 GRCh38 Chromosome 4, 112647716: 112647722
4 LARP7 NM_015454.2(LARP7): c.1024_1030dupAAGGATA (p.Thr344Lysfs) duplication Pathogenic rs1057519017 GRCh37 Chromosome 4, 113568872: 113568878
5 LARP7 LARP7, LYS276fs undetermined variant Pathogenic
6 LARP7 NM_015454.2(LARP7): c.213_214dup (p.Ser72Tyrfs) duplication Pathogenic rs1057519297 GRCh37 Chromosome 4, 113567517: 113567518
7 LARP7 NM_015454.2(LARP7): c.213_214dup (p.Ser72Tyrfs) duplication Pathogenic rs1057519297 GRCh38 Chromosome 4, 112646361: 112646362
8 LARP7 NM_015454.2(LARP7): c.651_655delGAAGA (p.Lys219Glufs) deletion Pathogenic rs756894838 GRCh38 Chromosome 4, 112647203: 112647207
9 LARP7 NM_015454.2(LARP7): c.651_655delGAAGA (p.Lys219Glufs) deletion Pathogenic rs756894838 GRCh37 Chromosome 4, 113568359: 113568363
10 LARP7 NM_001267039.1(LARP7): c.573+31A> G single nucleotide variant Uncertain significance rs1554011434 GRCh37 Chromosome 4, 113568142: 113568142
11 LARP7 NM_001267039.1(LARP7): c.573+31A> G single nucleotide variant Uncertain significance rs1554011434 GRCh38 Chromosome 4, 112646986: 112646986
12 LARP7 NM_015454.2(LARP7): c.503_504dup (p.Ala169Leufs) duplication Pathogenic rs1554011296 GRCh37 Chromosome 4, 113568062: 113568063
13 LARP7 NM_015454.2(LARP7): c.503_504dup (p.Ala169Leufs) duplication Pathogenic rs1554011296 GRCh38 Chromosome 4, 112646906: 112646907
14 LARP7 NM_001267039.1(LARP7): c.448del (p.Arg150Glufs) deletion Likely pathogenic GRCh38 Chromosome 4, 112646830: 112646830
15 LARP7 NM_001267039.1(LARP7): c.448del (p.Arg150Glufs) deletion Likely pathogenic GRCh37 Chromosome 4, 113567986: 113567986

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 10.38 MIR302A MIR302C 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 9.02 MIR302A MIR302B MIR302C 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 9.02 MIR302A MIR302B MIR302C MIR302D MIR367

Sources for Alazami Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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