ALAZS
MCID: ALZ030
MIFTS: 35

Alazami Syndrome (ALAZS)

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

Aliases & Classifications for Alazami Syndrome

MalaCards integrated aliases for Alazami Syndrome:

Name: Alazami Syndrome 56 58 73 36 29 13 6 71
Alazs 56 73
Facial Dysmorphism, Intellectual Disability, and Primordial Dwarfism 56
Facial Dysmorphism Intellectual Disability and Primordial Dwarfism 73
Microcephalic Primordial Dwarfism, Alazami Type 58
Syndrome, Alazami 39

Characteristics:

Orphanet epidemiological data:

58
microcephalic primordial dwarfism, alazami type
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
alazami syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Alazami Syndrome

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.

Related Diseases for Alazami Syndrome

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:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 widely spaced teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000687
2 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
3 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
4 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
5 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
6 wide nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000445
7 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
8 thickened skin 58 31 frequent (33%) Frequent (79-30%) HP:0001072
9 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
10 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
11 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
12 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
13 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
14 cutis marmorata 58 31 frequent (33%) Frequent (79-30%) HP:0000965
15 sparse eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0045075
16 short palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0012745
17 narrow palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0045025
18 abnormal eating behavior 58 31 frequent (33%) Frequent (79-30%) HP:0100738
19 mild microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0040196
20 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
21 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0011220
22 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
23 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
24 slender long bone 58 31 occasional (7.5%) Occasional (29-5%) HP:0003100
25 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
26 self-mutilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0000742
27 stereotypical hand wringing 58 31 occasional (7.5%) Occasional (29-5%) HP:0012171
28 seizure 31 occasional (7.5%) HP:0001250
29 global developmental delay 31 HP:0001263
30 depressed nasal bridge 31 HP:0005280
31 wide nasal bridge 31 HP:0000431
32 seizures 58 Occasional (29-5%)
33 sleep disturbance 58 Occasional (29-5%)
34 microcephaly 31 HP:0000252
35 stereotypy 58 Frequent (79-30%)
36 decreased body weight 31 HP:0004325
37 severe short stature 31 HP:0003510
38 abnormality of the orbital region 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
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 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 Behavioral Psychiatric Manifestations:
stereotypic hand-wringing (less common)
anxiety, severe (less common)

Skeletal Spine:
scoliosis

Head And Neck Ears:
low-set ears

Head And Neck Eyes:
deep-set eyes

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

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

Skin Nails Hair Skin:
thickened skin on hands and feet

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 29 LARP7

Anatomical Context for Alazami Syndrome

MalaCards organs/tissues related to Alazami Syndrome:

40
Eye, Skin, Bone, Brain, Thyroid

Publications for Alazami Syndrome

Articles related to Alazami Syndrome:

(show all 13)
# Title Authors PMID Year
1
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters. 6 56 61
30006060 2019
2
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. 56 6 61
26374271 2016
3
Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. 56 6
22865833 2012
4
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6 56
21937992 2011
5
Stabilize and connect: the role of LARP7 in nuclear non-coding RNA metabolism. 61
32401147 2020
6
The Alazami Syndrome-Associated Protein LARP7 Guides U6 Small Nuclear RNA Modification and Contributes to Splicing Robustness. 61
32017898 2020
7
Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing. 61
32244554 2020
8
Alazami syndrome: the first case of papillary thyroid carcinoma. 61
31656314 2020
9
Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders. 61
31074943 2019
10
de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation. 61
31467394 2019
11
Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome. 61
29619239 2018
12
Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency. 61
27766953 2016
13
Nucleolar Enrichment of Brain Proteins with Critical Roles in Human Neurodevelopment. 61
27053602 2016

Variations for Alazami Syndrome

ClinVar genetic disease variations for Alazami Syndrome:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LARP7 NM_016648.4(LARP7):c.503_504dup (p.Ala169fs)duplication Pathogenic 523643 rs1554011296 4:113568060-113568061 4:112646904-112646905
2 LARP7 NM_016648.4(LARP7):c.1024_1030dup (p.Thr344fs)duplication Pathogenic 39615 rs1057519017 4:113568870-113568871 4:112647714-112647715
3 LARP7 LARP7, LYS276fsundetermined variant Pathogenic 41475
4 LARP7 NM_016648.4(LARP7):c.802_1142+267deldeletion Pathogenic 211371 rs1554011754 4:113568508-113569255 4:112647352-112648099
5 LARP7 NM_016648.4(LARP7):c.209_210AT[4] (p.Ser72fs)short repeat Pathogenic 374899 rs1057519297 4:113567512-113567513 4:112646356-112646357
6 LARP7 NM_015454.2(LARP7):c.651_655delshort repeat Pathogenic 374900 rs756894838 4:113568353-113568357 4:112647197-112647201
7 LARP7 NM_016648.4(LARP7):c.679C>T (p.Arg227Ter)SNV Pathogenic 802084 4:113568387-113568387 4:112647231-112647231
8 LARP7 NM_016648.4(LARP7):c.1529_1541del (p.Tyr510fs)deletion Likely pathogenic 804445 4:113574345-113574357 4:112653189-112653201
9 LARP7 NM_016648.4(LARP7):c.427del (p.Arg143fs)deletion Likely pathogenic 592141 rs1560929898 4:113567984-113567984 4:112646828-112646828
10 LARP7 NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs)deletion Likely pathogenic 666362 4:113568938-113568941 4:112647782-112647785
11 LARP7 NM_016648.4(LARP7):c.203-12_231deldeletion Likely pathogenic 666361 4:113567491-113567531 4:112646335-112646375
12 LARP7 NM_016648.4(LARP7):c.552+31A>GSNV Uncertain significance 522764 rs1554011434 4:113568142-113568142 4:112646986-112646986

Expression for Alazami Syndrome

Search GEO for disease gene expression data for Alazami Syndrome.

Pathways for Alazami Syndrome

GO Terms for Alazami Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 box C/D snoRNA 3'-end processing GO:0000494 8.62 LARP7 FBL

Sources for Alazami Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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