Aase-Smith Syndrome I disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Aase-Smith Syndrome I

MalaCards integrated aliases for Aase-Smith Syndrome I:

Name: Aase-Smith Syndrome I ⁵⁶ ⁵²

Aase-Smith Syndrome ⁵⁶ ⁷⁴ ⁵⁸

Hydrocephalus-Cleft Palate-Joint Contractures Syndrome ⁵² ⁵⁸

Joint Contractures with Other Abnormalities ⁵⁶ ⁵²

Aase-Smith I Syndrome ⁵⁸

Aase Smith Syndrome ⁷¹

Characteristics:

Orphanet epidemiological data:

⁵⁸

aase-smith syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
stillborn or death in infancy

HPO:

³¹

aase-smith syndrome i:
Clinical modifier death in infancy
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Rare diseases Fetal 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

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 147800

MESH via Orphanet ⁴⁴ C535332

ICD10 via Orphanet ³³ Q87.8

UMLS via Orphanet ⁷² C0220686

Orphanet ⁵⁸ ORPHA916

MedGen ⁴¹ C0220686

UMLS ⁷¹ C0220686

Sources

Summaries for Aase-Smith Syndrome I

NIH Rare Diseases : ⁵² Hydrocephalus -cleft palate -joint contractures syndrome is a rare genetic disorder characterized by a buildup of fluid in the brain (hydrocephalus) due to a brain abnormality called Dandy-Walker malformation , cleft palate , and stiff or "frozen" joints (contractures). Less than 20 cases of hydrocephalus-cleft palate-joint contractures syndrome have been reported. Other symptoms might include: thin fingers with absent knuckles and reduced creases over the joints, ear abnormalities, heart defects, and clubfoot . The cause of hydrocephalus-cleft palate-joint contractures syndrome is not known, but it is likely genetic due to reports of affected family members and likely autosomal dominant inheritance. Treatment is specific to the symptoms present in each individual and might include surgical correction of birth defects such as cleft palate and clubfoot.

MalaCards based summary : Aase-Smith Syndrome I, also known as aase-smith syndrome, is related to diamond-blackfan anemia 1 and diamond-blackfan anemia 6. Affiliated tissues include brain, bone and heart, and related phenotypes are scoliosis and joint stiffness

Wikipedia : ⁷⁴ Aase syndrome or Aase-Smith syndrome is a rare inherited disorder characterized by anemia with some... more...

More information from OMIM: 147800

Sources

Related Diseases for Aase-Smith Syndrome I

Diseases related to Aase-Smith Syndrome I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)

#	Related Disease	Score
1	diamond-blackfan anemia 1	12.3
2	diamond-blackfan anemia 6	11.8
3	diamond-blackfan anemia	11.7
4	cleft palate, isolated	10.5
5	dandy-walker syndrome	10.4
6	alkuraya-kucinskas syndrome	10.4
7	distal arthrogryposis	10.4
8	congenital amyoplasia	10.4
9	arthrogryposis, distal, type 3	10.3
10	hypertelorism	10.3
11	anemia, x-linked, with or without neutropenia and/or platelet abnormalities	10.3
12	polydactyly	10.3
13	deficiency anemia	10.3
14	microcephaly	10.3
15	neutropenia	10.3
16	red cell aplasia	10.3

Graphical network of the top 20 diseases related to Aase-Smith Syndrome I:

Sources

Symptoms & Phenotypes for Aase-Smith Syndrome I

Human phenotypes related to Aase-Smith Syndrome I:

⁵⁸ ³¹ (show all 20)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	scoliosis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002650
2	joint stiffness ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001387
3	cleft palate ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000175
4	abnormality of the hip bone ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003272
5	multiple joint contractures ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002828
6	dandy-walker malformation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001305
7	trismus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000211
8	camptodactyly of finger ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0100490
9	abnormality of the pinna ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000377
10	talipes equinovarus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001762
11	aplasia/hypoplasia of the radius ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0006501
12	strabismus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000486
13	neoplasm ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002664
14	slender finger ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001238
15	hydrocephalus ³¹			HP:0000238
16	flexion contracture ³¹			HP:0001371
17	ptosis ³¹			HP:0000508
18	open mouth ³¹			HP:0000194
19	ventricular septal defect ³¹			HP:0001629
20	congenital neuroblastoma ³¹			HP:0006742

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Mouth:
cleft palate
limitation in ability to open mouth

Skeletal Feet:
talipes equinovarus

Head And Neck Ears:
deformed ears

Chest Ribs Sternum Clavicles And Scapulae:
single sternal ossification center

Skeletal Hands:
thin fingers with absent knuckles
reduced interphalangeal creases
inability to make a complete fist

Neurologic Central Nervous System:
hydrocephalus (dandy-walker anomaly)

Head And Neck Eyes:
ptosis

Neoplasia:
congenital neuroblastoma

Cardiovascular Heart:
multiple ventricular septal defects

Skeletal:
joint contractures, congenital, severe

Skin Nails Hair Skin:
hypoplastic dermal ridges

Clinical features from OMIM:

147800

Sources

Drugs & Therapeutics for Aase-Smith Syndrome I

Search Clinical Trials , NIH Clinical Center for Aase-Smith Syndrome I

Sources

Genetic Tests for Aase-Smith Syndrome I

Sources

Anatomical Context for Aase-Smith Syndrome I

MalaCards organs/tissues related to Aase-Smith Syndrome I:

⁴⁰

Brain, Bone, Heart, Bone Marrow

Sources

Publications for Aase-Smith Syndrome I

Articles related to Aase-Smith Syndrome I:

(show all 13)

#	Title	Authors	PMID	Year
1	A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome. ⁵⁶ ⁶¹	Becker K...Splitt M	11152147	2001
2	The Aase-Smith syndrome. ⁵⁶ ⁶¹	Patton MA...Winter RM	4075562	1985
3	Dysmorphogenesis of joints, brain, and palate: a new dominantly inherited syndrome. ⁵⁶	Aase JM...Smith DW	5678002	1968
4	Neuroblastoma, Ganglioneuroma and Fibroneuroma in a Stillborn Fetus. ⁵⁶	Potter EL...Parrish JM	19970612	1942
5	Limb anomalies and anemia: Aase-Smith syndrome. ⁶¹	Balci S	19065327	2008
6	Aase-Smith syndrome type II. ⁶¹	Soker M...Isikdogan A	15711686	2004
7	Favorable effect of splenectomy over a five year follow-up in a patient with Aase-Smith syndrome. ⁶¹	D'Avanzo M...Pistoia V	12414360	2002
8	[Aase-Smith syndrome]. ⁶¹	Matsuo M	11462719	2001
9	Occurrence of Dandy-Walker anomaly in a familial case of distal arthogryposis type IIB. ⁶¹	Pallotta R...Fusilli P	11146470	2000
10	Nosology of fetal hypokinesia sequence based on CNS abnormalities: is there an Aase-Smith syndrome? ⁶¹	David A...Verloes A	9001811	1996
11	Aase-Smith syndrome: report of a new case with unusual features. ⁶¹	Yetgin S...Say B	7974814	1994
12	Heterogeneity of the erythropoietic defect in two cases of Aase-Smith syndrome. ⁶¹	D'Avanzo M...Iafusco F	8204444	1994
13	Aase-Smith syndrome: report of a new case. ⁶¹	D'Avanzo M...Iafusco F	3179220	1988

Sources

Genes for Aase-Smith Syndrome I

Sources

Variations for Aase-Smith Syndrome I

Sources

Expression for Aase-Smith Syndrome I

Search GEO for disease gene expression data for Aase-Smith Syndrome I.

Sources

Pathways for Aase-Smith Syndrome I

Sources

GO Terms for Aase-Smith Syndrome I

Sources

Sources for Aase-Smith Syndrome I

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