MCID: PNC130
MIFTS: 9

Pancreatic Agenesis-Holoprosencephaly Syndrome

Categories: Endocrine diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pancreatic Agenesis-Holoprosencephaly Syndrome

MalaCards integrated aliases for Pancreatic Agenesis-Holoprosencephaly Syndrome:

Name: Pancreatic Agenesis-Holoprosencephaly Syndrome 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA556955

Summaries for Pancreatic Agenesis-Holoprosencephaly Syndrome

MalaCards based summary : Pancreatic Agenesis-Holoprosencephaly Syndrome An important gene associated with Pancreatic Agenesis-Holoprosencephaly Syndrome is CNOT1 (CCR4-NOT Transcription Complex Subunit 1). Affiliated tissues include bone and brain, and related phenotypes are prominent occiput and intrauterine growth retardation

Related Diseases for Pancreatic Agenesis-Holoprosencephaly Syndrome

Symptoms & Phenotypes for Pancreatic Agenesis-Holoprosencephaly Syndrome

Human phenotypes related to Pancreatic Agenesis-Holoprosencephaly Syndrome:

58 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prominent occiput 58 Occasional (29-5%)
2 intrauterine growth retardation 58 Frequent (79-30%)
3 high palate 58 Occasional (29-5%)
4 low-set ears 58 Occasional (29-5%)
5 holoprosencephaly 58 Frequent (79-30%)
6 hypoplasia of the zygomatic bone 58 Occasional (29-5%)
7 agenesis of corpus callosum 58 Frequent (79-30%)
8 hypotelorism 58 Occasional (29-5%)
9 single median maxillary incisor 58 Occasional (29-5%)
10 sloping forehead 58 Occasional (29-5%)
11 hypoxemia 58 Occasional (29-5%)
12 small for gestational age 58 Frequent (79-30%)
13 abnormality of the pinna 58 Occasional (29-5%)
14 absent gallbladder 58 Frequent (79-30%)
15 neonatal insulin-dependent diabetes mellitus 58 Frequent (79-30%)
16 abnormality of brain morphology 58 Frequent (79-30%)
17 pancreatic aplasia 58 Frequent (79-30%)
18 reduced c-peptide level 58 Frequent (79-30%)
19 hypoamylasemia 58 Frequent (79-30%)
20 decreased lipoprotein lipase activity 58 Frequent (79-30%)
21 semilobar holoprosencephaly 58 Occasional (29-5%)
22 aplasia/hypoplasia of the phalanges of the thumb 58 Occasional (29-5%)
23 abnormality of the external nose 58 Occasional (29-5%)

Drugs & Therapeutics for Pancreatic Agenesis-Holoprosencephaly Syndrome

Search Clinical Trials , NIH Clinical Center for Pancreatic Agenesis-Holoprosencephaly Syndrome

Genetic Tests for Pancreatic Agenesis-Holoprosencephaly Syndrome

Anatomical Context for Pancreatic Agenesis-Holoprosencephaly Syndrome

MalaCards organs/tissues related to Pancreatic Agenesis-Holoprosencephaly Syndrome:

40
Bone, Brain

Publications for Pancreatic Agenesis-Holoprosencephaly Syndrome

Variations for Pancreatic Agenesis-Holoprosencephaly Syndrome

Expression for Pancreatic Agenesis-Holoprosencephaly Syndrome

Search GEO for disease gene expression data for Pancreatic Agenesis-Holoprosencephaly Syndrome.

Pathways for Pancreatic Agenesis-Holoprosencephaly Syndrome

GO Terms for Pancreatic Agenesis-Holoprosencephaly Syndrome

Sources for Pancreatic Agenesis-Holoprosencephaly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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