HPE12
MCID: HLP031
MIFTS: 21

Holoprosencephaly 12 with or Without Pancreatic Agenesis (HPE12)

Categories: Endocrine diseases, Genetic diseases, Neuronal 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 56 73 6
Hpe12 56 73
Holoprosencephaly 12, with or Without Pancreatic Agenesis 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
holoprosencephaly 12 with or without pancreatic agenesis:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Holoprosencephaly 12 with or Without Pancreatic Agenesis

OMIM : 56 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 hpe12. An important gene associated with Holoprosencephaly 12 with or Without Pancreatic Agenesis is CNOT1 (CCR4-NOT Transcription Complex Subunit 1). Affiliated tissues include pancreas, brain and bone, and related phenotypes are spasticity and diabetes insipidus

UniProtKB/Swiss-Prot : 73 Holoprosencephaly 12 with or without pancreatic agenesis: An autosomal dominant form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. HPE12 clinical features include abnormal forebrain development, dysmorphic features, global developmental delay, learning difficulties, and congenital absence of the pancreas in most patients, resulting in early-onset insulin-dependent diabetes mellitus. Other features may include hearing loss and absence of the gallbladder.

Related Diseases for Holoprosencephaly 12 with or Without Pancreatic Agenesis

Symptoms & Phenotypes for Holoprosencephaly 12 with or Without Pancreatic Agenesis

Human phenotypes related to Holoprosencephaly 12 with or Without Pancreatic Agenesis:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 very rare (1%) HP:0001257
2 diabetes insipidus 31 very rare (1%) HP:0000873
3 seizure 31 very rare (1%) HP:0001250
4 global developmental delay 31 HP:0001263
5 depressed nasal bridge 31 HP:0005280
6 microtia 31 HP:0008551
7 microcephaly 31 HP:0000252
8 sensorineural hearing impairment 31 HP:0000407
9 type i diabetes mellitus 31 HP:0100651
10 intrauterine growth retardation 31 HP:0001511
11 high palate 31 HP:0000218
12 low-set ears 31 HP:0000369
13 epicanthus 31 HP:0000286
14 conductive hearing impairment 31 HP:0000405
15 long philtrum 31 HP:0000343
16 hypotelorism 31 HP:0000601
17 sloping forehead 31 HP:0000340
18 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge

Head And Neck Head:
microcephaly

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

Head And Neck Mouth:
high-arched palate

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

Muscle Soft Tissue:
low muscle tone

Abdomen Biliary Tract:
gall bladder agenesis

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

Growth Other:
intrauterine growth retardation

Head And Neck Eyes:
hypotelorism
epicanthal folds

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

40
Pancreas, Brain, 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. 56 6
31006510 2019
2
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development. 56 6
31006513 2019
3
Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report. 6 56
28525974 2017
4
Holoprosencephaly Overview 6
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CNOT1 NM_016284.5(CNOT1):c.1603C>T (p.Arg535Cys)SNV Uncertain significance 619606 rs1567417422 16:58610468-58610468 16:58576564-58576564

UniProtKB/Swiss-Prot genetic disease variations for Holoprosencephaly 12 with or Without Pancreatic Agenesis:

73
# Symbol AA change Variation ID SNP ID
1 CNOT1 p.Arg535Cys VAR_083066

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 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
Content
Loading form....