MCID: ART048
MIFTS: 16

Arthrogryposis Multiplex Congenita Whistling Face

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Arthrogryposis Multiplex Congenita Whistling Face

MalaCards integrated aliases for Arthrogryposis Multiplex Congenita Whistling Face:

Name: Arthrogryposis Multiplex Congenita Whistling Face 49 69
Lethal Autosomal Recessive Arthrogryposis Multiplex Congenita with Whistling Face and Calcifications of the Nervous System 49
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome 49
Illum Syndrome 49

Classifications:



Summaries for Arthrogryposis Multiplex Congenita Whistling Face

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Arthrogryposis multiplex congenita.

MalaCards based summary : Arthrogryposis Multiplex Congenita Whistling Face, also known as lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system, is related to illum syndrome, and has symptoms including narrow mouth, abnormality of the palate and pierre-robin sequence.

Related Diseases for Arthrogryposis Multiplex Congenita Whistling Face

Diseases related to Arthrogryposis Multiplex Congenita Whistling Face via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 illum syndrome 11.6

Symptoms & Phenotypes for Arthrogryposis Multiplex Congenita Whistling Face

Human phenotypes related to Arthrogryposis Multiplex Congenita Whistling Face:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 narrow mouth 31 hallmark (90%) HP:0000160
2 abnormality of the palate 31 occasional (7.5%) HP:0000174
3 pierre-robin sequence 31 frequent (33%) HP:0000201
4 thin vermilion border 31 hallmark (90%) HP:0000233
5 full cheeks 31 hallmark (90%) HP:0000293
6 whistling appearance 31 hallmark (90%) HP:0000346
7 micrognathia 31 frequent (33%) HP:0000347
8 hearing abnormality 31 occasional (7.5%) HP:0000364
9 abnormality of the nose 31 occasional (7.5%) HP:0000366
10 low-set, posteriorly rotated ears 31 hallmark (90%) HP:0000368
11 blepharophimosis 31 hallmark (90%) HP:0000581
12 adducted thumb 31 hallmark (90%) HP:0001181
13 abnormality of the fingernails 31 occasional (7.5%) HP:0001231
14 seizures 31 hallmark (90%) HP:0001250
15 muscular hypotonia 31 hallmark (90%) HP:0001252
16 joint stiffness 31 hallmark (90%) HP:0001387
17 intrauterine growth retardation 31 frequent (33%) HP:0001511
18 polyhydramnios 31 hallmark (90%) HP:0001561
19 eeg abnormality 31 frequent (33%) HP:0002353
20 downturned corners of mouth 31 occasional (7.5%) HP:0002714
21 abnormality of the shoulder 31 hallmark (90%) HP:0003043
22 short stature 31 hallmark (90%) HP:0004322
23 dimple chin 31 occasional (7.5%) HP:0010751
24 severe global developmental delay 31 hallmark (90%) HP:0011344

Drugs & Therapeutics for Arthrogryposis Multiplex Congenita Whistling Face

Search Clinical Trials , NIH Clinical Center for Arthrogryposis Multiplex Congenita Whistling Face

Genetic Tests for Arthrogryposis Multiplex Congenita Whistling Face

Anatomical Context for Arthrogryposis Multiplex Congenita Whistling Face

Publications for Arthrogryposis Multiplex Congenita Whistling Face

Variations for Arthrogryposis Multiplex Congenita Whistling Face

Expression for Arthrogryposis Multiplex Congenita Whistling Face

Search GEO for disease gene expression data for Arthrogryposis Multiplex Congenita Whistling Face.

Pathways for Arthrogryposis Multiplex Congenita Whistling Face

GO Terms for Arthrogryposis Multiplex Congenita Whistling Face

Sources for Arthrogryposis Multiplex Congenita Whistling Face

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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