HPE12
MCID: HLP031
MIFTS: 16

Holoprosencephaly 12 with or Without Pancreatic Agenesis (HPE12)

Categories: Endocrine diseases, Genetic diseases

Aliases & Classifications for Holoprosencephaly 12 with or Without Pancreatic Agenesis

MalaCards integrated aliases for Holoprosencephaly 12 with or Without Pancreatic Agenesis:

Name: Holoprosencephaly 12 with or Without Pancreatic Agenesis 57 6
Holoprosencephaly 12, with or Without Pancreatic Agenesis 57
Hpe12 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation
onset in utero
early death may occur


Classifications:



External Ids:

Summaries for Holoprosencephaly 12 with or Without Pancreatic Agenesis

OMIM : 57 Holoprosencephaly-12 with or without pancreatic agenesis (HPE12) is a developmental disorder characterized by abnormal separation of the embryonic forebrain (HPE) resulting in dysmorphic facial features and often, but not always, impaired neurologic development. Most patients with this form of HPE also have congenital absence of the pancreas, resulting in early-onset insulin-dependent diabetes mellitus and requiring pancreatic enzyme replacement. Other features may include hearing loss and absence of the gallbladder (summary by De Franco et al., 2019 and Kruszka et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). (618500)

MalaCards based summary : Holoprosencephaly 12 with or Without Pancreatic Agenesis, is also known as holoprosencephaly 12, with or without pancreatic agenesis. An important gene associated with Holoprosencephaly 12 with or Without Pancreatic Agenesis is CNOT1 (CCR4-NOT Transcription Complex Subunit 1). Affiliated tissues include pancreas and bone.

Related Diseases for Holoprosencephaly 12 with or Without Pancreatic Agenesis

Symptoms & Phenotypes for Holoprosencephaly 12 with or Without Pancreatic Agenesis

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
microtia
dysplastic ears
hearing loss, conductive
hearing loss, sensorineural

Head And Neck Head:
microcephaly

Growth Other:
intrauterine growth retardation

Head And Neck Mouth:
high-arched palate

Neurologic Central Nervous System:
seizures (in some patients)
learning difficulties
corpus callosum abnormalities
spasticity (1 patient)
global developmental delay (in most patients)
more
Muscle Soft Tissue:
low muscle tone

Abdomen Biliary Tract:
gall bladder agenesis

Head And Neck Nose:
depressed nasal bridge

Head And Neck Face:
long philtrum
receding forehead
dysmorphic features, variable
hypoplastic zygomatic bone

Head And Neck Eyes:
hypotelorism
epicanthal folds

Endocrine Features:
insulin-dependent diabetes mellitus
diabetes insipidus (1 patient)

Abdomen Pancreas:
pancreatic exocrine deficiency
pancreatic agenesis
pancreatic endocrine deficiency

Head And Neck Teeth:
large central incisors

Clinical features from OMIM:

618500

Drugs & Therapeutics for Holoprosencephaly 12 with or Without Pancreatic Agenesis

Search Clinical Trials , NIH Clinical Center for Holoprosencephaly 12 with or Without Pancreatic Agenesis

Genetic Tests for Holoprosencephaly 12 with or Without Pancreatic Agenesis

Anatomical Context for Holoprosencephaly 12 with or Without Pancreatic Agenesis

MalaCards organs/tissues related to Holoprosencephaly 12 with or Without Pancreatic Agenesis:

41
Pancreas, Bone

Publications for Holoprosencephaly 12 with or Without Pancreatic Agenesis

Articles related to Holoprosencephaly 12 with or Without Pancreatic Agenesis:

# Title Authors PMID Year
1
A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly. 8 71
31006510 2019
2
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development. 8 71
31006513 2019
3
Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report. 8 71
28525974 2017
4
Holoprosencephaly Overview 71
20301702 2000

Variations for Holoprosencephaly 12 with or Without Pancreatic Agenesis

ClinVar genetic disease variations for Holoprosencephaly 12 with or Without Pancreatic Agenesis:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CNOT1 NM_001265612.2(CNOT1): c.1603C> T (p.Arg535Cys) single nucleotide variant Uncertain significance 16:58610468-58610468 16:58576564-58576564

Expression for Holoprosencephaly 12 with or Without Pancreatic Agenesis

Search GEO for disease gene expression data for Holoprosencephaly 12 with or Without Pancreatic Agenesis.

Pathways for Holoprosencephaly 12 with or Without Pancreatic Agenesis

GO Terms for Holoprosencephaly 12 with or Without Pancreatic Agenesis

Sources for Holoprosencephaly 12 with or Without Pancreatic Agenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....