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

ALAZS MCID: ALZ030 MIFTS: 35	Alazami Syndrome (ALAZS) Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Sources

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:

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

See all MalaCards categories (disease lists)

ICD10: ³³

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: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 615071

KEGG ³⁶ H02233

MeSH ⁴³ D004392 D008607

ICD10 via Orphanet ³³ Q87.1

Orphanet ⁵⁸ ORPHA319671

MedGen ⁴¹ C3554439 CN165475

UMLS ⁷¹ C3554439

Sources

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.

Sources

Related Diseases for Alazami Syndrome

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

(show all 13)

#	Related Disease	Score	Top Affiliating Genes
1	alazami-yuan syndrome	11.5
2	isolated growth hormone deficiency, type ia	10.3
3	alacrima, achalasia, and mental retardation syndrome	10.3
4	dwarfism	10.3
5	thyroid cancer, nonmedullary, 1	10.1
6	abnormal hair, joint laxity, and developmental delay	10.1
7	global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	10.1
8	seckel syndrome	10.1
9	autosomal recessive disease	10.1
10	microcephaly	10.1
11	thyroid carcinoma	10.1
12	testicular germ cell tumor	9.3	MIR367 MIR302D
13	germ cell cancer	9.2	MIR367 MIR302D

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

Sources

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

Sources

Drugs & Therapeutics for Alazami Syndrome

Search Clinical Trials , NIH Clinical Center for Alazami Syndrome

Sources

Genetic Tests for Alazami Syndrome

Genetic tests related to Alazami Syndrome:

#	Genetic test	Affiliating Genes
1	Alazami Syndrome ²⁹	LARP7

Sources

Anatomical Context for Alazami Syndrome

MalaCards organs/tissues related to Alazami Syndrome:

⁴⁰

Eye, Skin, Bone, Brain, Thyroid

Sources

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	Imbert-Bouteille M...Willems M	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	Ling TT...Sorrentino S	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	Alazami AM...Alkuraya FS	22865833	2012
4	Deep sequencing reveals 50 novel genes for recessive cognitive disorders. ⁶ ⁵⁶	Najmabadi H...Ropers HH	21937992	2011
5	Stabilize and connect: the role of LARP7 in nuclear non-coding RNA metabolism. ⁶¹	Hasler D...Fischer U	32401147	2020
6	The Alazami Syndrome-Associated Protein LARP7 Guides U6 Small Nuclear RNA Modification and Contributes to Splicing Robustness. ⁶¹	Hasler D...Meister G	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	Palumbo P...Castori M	32244554	2020
8	Alazami syndrome: the first case of papillary thyroid carcinoma. ⁶¹	Ivanovski I...Garavelli L	31656314	2020
9	Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders. ⁶¹	Wojcik MH...Rappaport L	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	Schneeberger PE...Kutsche K	31467394	2019
11	Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome. ⁶¹	Dateki S...Moriuchi H	29619239	2018
12	Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency. ⁶¹	Holohan B...Shay JW	27766953	2016
13	Nucleolar Enrichment of Brain Proteins with Critical Roles in Human Neurodevelopment. ⁶¹	Slomnicki LP...Hetman M	27053602	2016

Sources

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 7, Transcriptional Regulator	Protein Coding	1376.24	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	22865833 26374271 21937992 (more) 30006060
2	MIR302CHG	MiR-302/367 Cluster Host Gene	RNA Gene	7.87	GeneCards inferred via : Variants (show sections)
3	MIR302D	MicroRNA 302d	RNA Gene	6.83	GeneCards inferred via : Variants (show sections)
4	MIR367	MicroRNA 367	RNA Gene	6.83	GeneCards inferred via : Variants (show sections)
5	FBL	Fibrillarin	Protein Coding	6.48	GeneCards inferred via : Publications (show sections)

Sources

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, LYS276fs	undetermined variant	Pathogenic	41475
4	LARP7	NM_016648.4(LARP7):c.802_1142+267del	deletion	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_655del	short 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_231del	deletion	Likely pathogenic	666361		4:113567491-113567531	4:112646335-112646375
12	LARP7	NM_016648.4(LARP7):c.552+31A>G	SNV	Uncertain significance	522764	rs1554011434	4:113568142-113568142	4:112646986-112646986

Sources

Expression for Alazami Syndrome

Search GEO for disease gene expression data for Alazami Syndrome.

Sources

Pathways for Alazami Syndrome

Sources

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

Sources for Alazami Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

GO Terms for Alazami Syndrome

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

Sources for Alazami Syndrome