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

UniProtKB/Swiss-Prot: ⁷³ 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 microcephalic primordial dwarfism, alazami type, is related to alacrima, achalasia, and mental retardation syndrome and persistent hyperplastic primary vitreous, autosomal recessive. 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

Orphanet: ⁵⁸ A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth).

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 24-Oct-2022)

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Related Diseases for Alazami Syndrome

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

(show all 12)

#	Related Disease	Score
1	alacrima, achalasia, and mental retardation syndrome	10.4
2	persistent hyperplastic primary vitreous, autosomal recessive	10.4
3	isolated growth hormone deficiency, type ia	10.1
4	microcephaly	10.1
5	chromosome 2q35 duplication syndrome	10.0
6	thyroid cancer, nonmedullary, 1	10.0
7	glaucoma 3, primary congenital, a	10.0
8	phenylketonuria	10.0
9	smith-lemli-opitz syndrome	10.0
10	opitz gbbb syndrome	10.0
11	seckel syndrome	10.0
12	thyroid carcinoma	10.0

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:

⁵⁸ ³⁰ (show all 38)

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 24-Oct-2022)

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:
short philtrum
wide mouth
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 24-Oct-2022)

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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	Microcephalic Primordial Dwarfism, Alazami Type ²⁸	LARP7

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Anatomical Context for Alazami Syndrome

Organs/tissues related to Alazami Syndrome:

MalaCards : Eye, Skin, Bone, Thyroid, Brain

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Publications for Alazami Syndrome

Articles related to Alazami Syndrome:

(show all 21)

#	Title	Authors	PMID	Year
1	LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters. ⁶² ⁵⁷ ⁵	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. ⁶² ⁵⁷ ⁵	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. ⁶² ⁵⁷ ⁵	Alazami AM...Alkuraya FS	22865833	2012
4	Deep sequencing reveals 50 novel genes for recessive cognitive disorders. ⁵⁷ ⁵	Najmabadi H...Ropers HH	21937992	2011
5	Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features. ⁵	Hollink IH...van de Laar IM	26607181	2016
6	[Genetic diagnosis of a Chinese pedigree affected with Alazami syndrome]. ⁶²	He F...Mao X	36184089	2022
7	Expanding the phenotypic spectrum of Alazami Syndrome: two unrelated Spanish families. ⁶²	Soengas Gonda E...Moreno Garcia M	36126956	2022
8	Further phenotypic delineation of Alazami syndrome. ⁶²	Al-Hinai A...Al-Maawali A	35567578	2022
9	Patient with Phenylketonuria and Intellectual Disability-Problem Not Always Caused Exclusively by Insufficient Metabolic Control (Coexistence of PKU and Alazami Syndrome). ⁶²	Patalan M...Gizewska M	35270292	2022
10	Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood. ⁶²	Das S...Danda S	33569879	2021
11	Stabilize and connect: the role of LARP7 in nuclear non-coding RNA metabolism. ⁶²	Hasler D...Fischer U	32401147	2021
12	Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism. ⁶²	Kazemi G...Najmabadi H	33356342	2020
13	Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome. ⁶²	Gana S...Valente EM	32888391	2020
14	Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing. ⁶²	Palumbo P...Castori M	32244554	2020
15	The Alazami Syndrome-Associated Protein LARP7 Guides U6 Small Nuclear RNA Modification and Contributes to Splicing Robustness. ⁶²	Hasler D...Meister G	32017898	2020
16	Alazami syndrome: the first case of papillary thyroid carcinoma. ⁶²	Ivanovski I...Garavelli L	31656314	2020
17	de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation. ⁶²	Schneeberger PE...Kutsche K	31467394	2019
18	Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders. ⁶²	Wojcik MH...Rappaport L	31074943	2019
19	Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome. ⁶²	Dateki S...Moriuchi H	29619239	2018
20	Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency. ⁶²	Holohan B...Shay JW	27766953	2016
21	Nucleolar Enrichment of Brain Proteins with Critical Roles in Human Neurodevelopment. ⁶²	Slomnicki LP...Hetman M	27053602	2016

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Genes for Alazami Syndrome

Genes related to Alazami Syndrome (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LARP7	La Ribonucleoprotein 7, Transcriptional Regulator	Protein Coding	1392.39	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders Publications (show sections)	21937992 22865833 26374271 (more) 26607181 30006060
2	MIR302CHG	MiR-302/367 Cluster Host Gene	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵	22865833 26374271 26607181 (more) 30006060

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Variations for Alazami Syndrome

ClinVar genetic disease variations for Alazami Syndrome:

IMPROVED

⁵ (show all 28)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	LARP7	LARP7, LYS276fs	VAR	Pathogenic	41475		GRCh37: GRCh38:
2	LARP7, MIR302CHG	NM_016648.4(LARP7):c.1024_1030dup (p.Thr344fs)	DUP	Pathogenic	39615	rs1057519017	GRCh37: 4:113568870-113568871 GRCh38: 4:112647714-112647715
3	LARP7	NM_016648.4(LARP7):c.213_214dup (p.Ser72fs)	MICROSAT	Pathogenic	374899	rs1057519297	GRCh37: 4:113567512-113567513 GRCh38: 4:112646356-112646357
4	LARP7, MIR302CHG	NM_016648.4(LARP7):c.503_504dup (p.Ala169fs)	DUP	Pathogenic	523643	rs1554011296	GRCh37: 4:113568060-113568061 GRCh38: 4:112646904-112646905
5	LARP7, MIR302CHG	NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs)	DEL	Pathogenic	666362	rs775657157	GRCh37: 4:113568938-113568941 GRCh38: 4:112647782-112647785
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	NM_016648.4(LARP7):c.297_303+2del	DEL	Pathogenic	1323230		GRCh37: 4:113567599-113567607 GRCh38: 4:112646443-112646451
8	LARP7	NM_016648.4(LARP7):c.119dup (p.Gln41fs)	DUP	Pathogenic	1323231		GRCh37: 4:113565942-113565943 GRCh38: 4:112644786-112644787
9	LARP7, MIR302CHG	NM_016648.4(LARP7):c.1045_1051dup (p.Ser351Ter)	DUP	Pathogenic	1325791		GRCh37: 4:113568892-113568893 GRCh38: 4:112647736-112647737
10	LARP7, MIR302CHG	NM_016648.4(LARP7):c.690_699delinsTCCAAGCCAATAGACAATATCCAAGCC (p.Lys230_Asn233delinsAsnProSerGlnTer)	INDEL	Pathogenic	1526263		GRCh37: 4:113568398-113568407 GRCh38: 4:112647242-112647251
11	LARP7, MIR302CHG and overlap with 2 gene(s)	NM_016648.4(LARP7):c.802_1142+267del	DEL	Pathogenic	211371	rs1554011754	GRCh37: 4:113568508-113569255 GRCh38: 4:112647352-112648099
12	LARP7	NM_016648.4(LARP7):c.64_65del (p.Glu22fs)	DEL	Pathogenic	1308663		GRCh37: 4:113565888-113565889 GRCh38: 4:112644732-112644733
13	LARP7, MIR302CHG	NM_016648.4(LARP7):c.789dup (p.Glu264Ter)	DUP	Pathogenic	1308667		GRCh37: 4:113568495-113568496 GRCh38: 4:112647339-112647340
14	LARP7, MIR302CHG	NM_016648.4(LARP7):c.834dup (p.Arg279fs)	DUP	Pathogenic	504211	rs763929099	GRCh37: 4:113568536-113568537 GRCh38: 4:112647380-112647381
15	LARP7, MIR302CHG	NM_016648.3(LARP7):c.651_655delGAAGA	MICROSAT	Pathogenic	374900		GRCh37: 4:113568353-113568357 GRCh38: 4:112647197-112647201
16	LARP7, MIR302CHG	NM_016648.4(LARP7):c.1056_1057del (p.Leu353fs)	MICROSAT	Likely Pathogenic	1324654		GRCh37: 4:113568898-113568899 GRCh38: 4:112647742-112647743
17	LARP7, MIR302CHG	NM_016648.4(LARP7):c.887_888insTCTC (p.Lys296fs)	INSERT	Likely Pathogenic	1324655		GRCh37: 4:113568595-113568596 GRCh38: 4:112647439-112647440
18	LARP7, MIR302CHG	NM_016648.4(LARP7):c.1018del (p.Glu340fs)	DEL	Likely Pathogenic	1324656		GRCh37: 4:113568866-113568866 GRCh38: 4:112647710-112647710
19	LARP7, MIR302CHG	NM_016648.4(LARP7):c.422_429del (p.Ile141fs)	DEL	Likely Pathogenic	1324657		GRCh37: 4:113567979-113567986 GRCh38: 4:112646823-112646830
20	LARP7, MIR302CHG	NM_016648.4(LARP7):c.552+1G>T	SNV	Likely Pathogenic	377284	rs200544616	GRCh37: 4:113568112-113568112 GRCh38: 4:112646956-112646956
21	LARP7, MIR302CHG	NM_016648.4(LARP7):c.691_694del (p.Glu231fs)	DEL	Likely Pathogenic	1342838		GRCh37: 4:113568396-113568399 GRCh38: 4:112647240-112647243
22	LARP7, MIR302CHG	NM_016648.4(LARP7):c.651G>C (p.Glu217Asp)	SNV	Likely Pathogenic	129479	rs141178932	GRCh37: 4:113568359-113568359 GRCh38: 4:112647203-112647203
23	LARP7	NM_016648.4(LARP7):c.320C>T (p.Thr107Ile)	SNV	Likely Pathogenic	218568	rs200393300	GRCh37: 4:113567760-113567760 GRCh38: 4:112646604-112646604
24	LARP7	NM_016648.4(LARP7):c.1529_1541del (p.Tyr510fs)	DEL	Likely Pathogenic	804445	rs1578642104	GRCh37: 4:113574345-113574357 GRCh38: 4:112653189-112653201
25	LARP7, MIR302CHG	NM_016648.4(LARP7):c.427del (p.Arg143fs)	DEL	Likely Pathogenic	592141	rs1560929898	GRCh37: 4:113567984-113567984 GRCh38: 4:112646828-112646828
26	LARP7	NM_016648.4(LARP7):c.203-12_231del	DEL	Likely Pathogenic	666361	rs1578580129	GRCh37: 4:113567491-113567531 GRCh38: 4:112646335-112646375
27	LARP7, MIR302CHG	NM_016648.4(LARP7):c.552+31A>G	SNV	Uncertain Significance	522764	rs1554011434	GRCh37: 4:113568142-113568142 GRCh38: 4:112646986-112646986
28	LARP7	NM_016648.4(LARP7):c.1417-15T>G	SNV	Uncertain Significance	1030574	rs755713392	GRCh37: 4:113574218-113574218 GRCh38: 4:112653062-112653062

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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

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GO Terms for Alazami Syndrome

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Sources for Alazami Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

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¹⁵ DrugBank

¹⁶ EFO

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¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

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 NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 24-Oct-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

ALAZS MCID: ALZ030 MIFTS: 34	Alazami Syndrome (ALAZS) Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Alazami Syndrome (ALAZS)

Aliases & Classifications for Alazami Syndrome

MalaCards integrated aliases for Alazami Syndrome:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

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

Organs/tissues related to Alazami Syndrome:

Publications for Alazami Syndrome

Articles related to Alazami Syndrome:

Genes for Alazami Syndrome

Genes related to Alazami Syndrome (2 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

Sources for Alazami Syndrome