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 57 58 72 36 29 13 6 70
Alazs 57 72
Facial Dysmorphism, Intellectual Disability, and Primordial Dwarfism 57
Facial Dysmorphism Intellectual Disability and Primordial Dwarfism 72
Microcephalic Primordial Dwarfism, Alazami Type 58
Syndrome, Alazami 39

Characteristics:

Orphanet epidemiological data:

58
alazami syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
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 : 72 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 alacrima, achalasia, and mental retardation 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, bone and brain, and related phenotypes are widely spaced teeth and intellectual disability, severe

OMIM® : 57 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) (Updated 05-Apr-2021)

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 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
9 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
10 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
11 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
12 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
13 cutis marmorata 58 31 frequent (33%) Frequent (79-30%) HP:0000965
14 thickened skin 58 31 frequent (33%) Frequent (79-30%) HP:0001072
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 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
22 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0011220
23 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
24 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
25 slender long bone 58 31 occasional (7.5%) Occasional (29-5%) HP:0003100
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 seizures 58 Occasional (29-5%)
30 sleep disturbance 58 Occasional (29-5%)
31 global developmental delay 31 HP:0001263
32 depressed nasal bridge 31 HP:0005280
33 wide nasal bridge 31 HP:0000431
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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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, Bone, Brain, Thyroid

Publications for Alazami Syndrome

Articles related to Alazami Syndrome:

(show all 16)
# Title Authors PMID Year
1
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters. 61 6 57
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. 61 57 6
26374271 2016
3
Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. 57 6
22865833 2012
4
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 57 6
21937992 2011
5
Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood. 61
33569879 2021
6
Stabilize and connect: the role of LARP7 in nuclear non-coding RNA metabolism. 61
32401147 2021
7
Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism. 61
33356342 2020
8
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome. 61
32888391 2020
9
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
10
The Alazami Syndrome-Associated Protein LARP7 Guides U6 Small Nuclear RNA Modification and Contributes to Splicing Robustness. 61
32017898 2020
11
Alazami syndrome: the first case of papillary thyroid carcinoma. 61
31656314 2020
12
de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation. 61
31467394 2019
13
Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders. 61
31074943 2019
14
Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome. 61
29619239 2018
15
Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency. 61
27766953 2016
16
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 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LARP7 , MIR302CHG NM_016648.4(LARP7):c.1024_1030dup (p.Thr344fs) Duplication Pathogenic 39615 rs1057519017 GRCh37: 4:113568870-113568871
GRCh38: 4:112647714-112647715
2 LARP7 LARP7, LYS276fs Variation Pathogenic 41475 GRCh37:
GRCh38:
3 LARP7 , MIR302CHG and overlap with 2 gene(s) NM_016648.4(LARP7):c.802_1142+267del Deletion Pathogenic 211371 rs1554011754 GRCh37: 4:113568508-113569255
GRCh38: 4:112647352-112648099
4 LARP7 , MIR302CHG NM_015454.2(LARP7):c.651_655del Microsatellite Pathogenic 374900 GRCh37: 4:113568353-113568357
GRCh38: 4:112647197-112647201
5 LARP7 NM_016648.4(LARP7):c.209_210AT[4] (p.Ser72fs) Microsatellite Pathogenic 374899 rs1057519297 GRCh37: 4:113567512-113567513
GRCh38: 4:112646356-112646357
6 LARP7 , MIR302CHG NM_016648.4(LARP7):c.679C>T (p.Arg227Ter) SNV Pathogenic 802084 rs775430086 GRCh37: 4:113568387-113568387
GRCh38: 4:112647231-112647231
7 LARP7 , MIR302CHG NM_016648.4(LARP7):c.834dup (p.Arg279fs) Duplication Pathogenic 504211 rs763929099 GRCh37: 4:113568536-113568537
GRCh38: 4:112647380-112647381
8 LARP7 , MIR302CHG NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs) Deletion Pathogenic 666362 rs775657157 GRCh37: 4:113568938-113568941
GRCh38: 4:112647782-112647785
9 LARP7 , MIR302CHG NM_016648.4(LARP7):c.420del (p.Ser139_Trp140insTer) Deletion Pathogenic 1031974 GRCh37: 4:113567978-113567978
GRCh38: 4:112646822-112646822
10 LARP7 , MIR302CHG NM_016648.4(LARP7):c.503_504dup (p.Ala169fs) Duplication Pathogenic 523643 rs1554011296 GRCh37: 4:113568060-113568061
GRCh38: 4:112646904-112646905
11 LARP7 NM_016648.4(LARP7):c.203-12_231del Deletion Likely pathogenic 666361 rs1578580129 GRCh37: 4:113567491-113567531
GRCh38: 4:112646335-112646375
12 LARP7 , MIR302CHG NM_016648.4(LARP7):c.427del (p.Arg143fs) Deletion Likely pathogenic 592141 rs1560929898 GRCh37: 4:113567984-113567984
GRCh38: 4:112646828-112646828
13 LARP7 NM_016648.4(LARP7):c.1529_1541del (p.Tyr510fs) Deletion Likely pathogenic 804445 rs1578642104 GRCh37: 4:113574345-113574357
GRCh38: 4:112653189-112653201
14 LARP7 , MIR302CHG NM_016648.4(LARP7):c.552+31A>G SNV Uncertain significance 522764 rs1554011434 GRCh37: 4:113568142-113568142
GRCh38: 4:112646986-112646986
15 LARP7 NM_016648.4(LARP7):c.1417-15T>G SNV Uncertain significance 1030574 GRCh37: 4:113574218-113574218
GRCh38: 4:112653062-112653062

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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