Alazami Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁶⁰

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 615071

KEGG ³⁸ H02233

MeSH ⁴⁵ D004392 D008607

ICD10 via Orphanet ³⁵ Q87.1

Orphanet ⁶⁰ ORPHA319671

MedGen ⁴³ C3554439 CN165475

UMLS ⁷⁴ C3554439

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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 myeloid, and related phenotypes are malar flattening and low-set ears

Description from OMIM: 615071

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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	9.4	MIR302A MIR302B MIR367
7	melanoma	9.1	MIR302A MIR302B MIR302C MIR302D

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

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Symptoms & Phenotypes for Alazami Syndrome

Human phenotypes related to Alazami Syndrome:

³³ (show all 15)

#	Description	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

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Drugs & Therapeutics for Alazami Syndrome

Search Clinical Trials , NIH Clinical Center for Alazami Syndrome

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Genetic Tests for Alazami Syndrome

Genetic tests related to Alazami Syndrome:

#	Genetic test	Affiliating Genes
1	Alazami Syndrome ³⁰	LARP7

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Anatomical Context for Alazami Syndrome

MalaCards organs/tissues related to Alazami Syndrome:

⁴²

Eye, Myeloid

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Publications for Alazami Syndrome

Articles related to Alazami Syndrome:

#	Title	Authors	Year
1	LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters. ( 30006060 )	Imbert-Bouteille M...Willems M	2019
2	Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders. ( 31074943 )	Wojcik MH...Rappaport L	2019
3	Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome. ( 29619239 )	Dateki S...Moriuchi H	2018
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 )	Ling TT...Sorrentino S	2016
5	Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency. ( 27766953 )	Holohan B...Shay JW	2016
6	Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. ( 22865833 )	Alazami AM...Alkuraya FS	2012
7	Deep sequencing reveals 50 novel genes for recessive cognitive disorders. ( 21937992 )	Najmabadi H...Ropers HH	2011

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Genes for Alazami Syndrome

Genes related to Alazami Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LARP7	La Ribonucleoprotein Domain Family Member 7	Protein Coding	1386	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Disorders Publications Variants (show sections)	22865833 21937992 26374271
2	MIR302CHG	MiR-302/367 Cluster Host Gene	RNA Gene	7.86	GeneCards inferred via : Variants (show sections)
3	MIR302A	MicroRNA 302a	RNA Gene	7.31	GeneCards inferred via : Variants (show sections)
4	MIR302D	MicroRNA 302d	RNA Gene	7.31	GeneCards inferred via : Variants (show sections)
5	MIR367	MicroRNA 367	RNA Gene	7.31	GeneCards inferred via : Variants (show sections)
6	MIR302B	MicroRNA 302b	RNA Gene	6.96	GeneCards inferred via : Variants (show sections)
7	MIR302C	MicroRNA 302c	RNA Gene	6.96	GeneCards inferred via : Variants (show sections)

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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_015454.2(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	rs1554011754	GRCh38	Chromosome 4, 112647354: 112648101
5	LARP7	NM_015454.1(LARP7): c.802_1142+267del	deletion	Pathogenic	rs1554011754	GRCh37	Chromosome 4, 113568510: 113569257
6	LARP7	NM_015454.2(LARP7): c.651_655delGAAGA (p.Lys219Glufs)	deletion	Pathogenic	rs756894838	GRCh38	Chromosome 4, 112647203: 112647207
7	LARP7	NM_015454.2(LARP7): c.213_214dup (p.Ser72Tyrfs)	duplication	Pathogenic	rs1057519297	GRCh37	Chromosome 4, 113567517: 113567518
8	LARP7	NM_015454.2(LARP7): c.213_214dup (p.Ser72Tyrfs)	duplication	Pathogenic	rs1057519297	GRCh38	Chromosome 4, 112646361: 112646362
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

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Expression for Alazami Syndrome

Search GEO for disease gene expression data for Alazami Syndrome.

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Pathways for Alazami Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Cell Differentiation - Index ¹	10.38	MIR302A MIR302C MIR302D

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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

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Sources for Alazami Syndrome

¹ BioSystems

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⁹ Cosmic

¹⁰ dbSNP

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²⁴ GeneHancer via GeneCards

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²⁹ GO

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³⁴ ICD10

³⁵ ICD10 via Orphanet

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³⁷ IUPHAR

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⁴⁰ LncRNADisease

⁴¹ LOVD

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⁴⁹ NCBI Bookshelf

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⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

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⁵⁶ Novoseek

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⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

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⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Alazami Syndrome (ALAZS)

Aliases & Classifications for Alazami Syndrome

MalaCards integrated aliases for Alazami Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Alazami Syndrome

Related Diseases for Alazami Syndrome

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

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

Symptoms & Phenotypes for Alazami Syndrome

Human phenotypes related to Alazami Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Alazami Syndrome

Genetic Tests for Alazami Syndrome

Genetic tests related to Alazami Syndrome:

Anatomical Context for Alazami Syndrome

MalaCards organs/tissues related to Alazami Syndrome:

Publications for Alazami Syndrome

Articles related to Alazami Syndrome:

Genes for Alazami Syndrome

Genes related to Alazami Syndrome (1 elite genes):

Variations for Alazami Syndrome

ClinVar genetic disease variations for Alazami Syndrome:

Expression for Alazami Syndrome

Pathways for Alazami Syndrome

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

GO Terms for Alazami Syndrome

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

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

Sources for Alazami Syndrome