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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

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: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 615071

Orphanet ⁵⁹ ORPHA319671

ICD10 via Orphanet ³⁴ Q87.1

MedGen ⁴² C3554439 CN165475

MeSH ⁴⁴ D004392 D008607

UMLS ⁷³ C3554439

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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 related phenotypes are wide mouth and microcephaly

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	10.3
2	alacrima, achalasia, and mental retardation syndrome	10.3
3	dwarfism	10.3
4	global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	9.9
5	testicular germ cell tumor	9.2	MIR302D MIR367
6	melanoma	9.2	MIR302A MIR302D
7	leukemia, acute myeloid	9.1	MIR302D MIR367

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

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

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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 ²⁹	LARP7

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Anatomical Context for Alazami Syndrome

MalaCards organs/tissues related to Alazami Syndrome:

⁴¹

Eye

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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 )	Dateki S....Moriuchi H.	2018
2	Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency. ( 27766953 )	Holohan B....Shay J.W.	2016
3	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 T.T....Sorrentino S.	2015

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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	1385.86	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	22865833 21937992 26374271
2	MIR302D	MicroRNA 302d	RNA Gene	7.08	GeneCards inferred via : Variants (show sections)
3	MIR367	MicroRNA 367	RNA Gene	7.08	GeneCards inferred via : Variants (show sections)
4	MIR302A	MicroRNA 302a	RNA Gene	7.08	GeneCards inferred via : Variants (show sections)

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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		GRCh38	Chromosome 4, 112646906: 112646907
13	LARP7	NM_015454.2(LARP7): c.503_504dup (p.Ala169Leufs)	duplication	Pathogenic		GRCh37	Chromosome 4, 113568062: 113568063

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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	10.2	MIR302A MIR302D

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GO Terms for Alazami Syndrome

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Sources for Alazami Syndrome

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