AMC4
MCID: ART166
MIFTS: 21

Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum (AMC4)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis...

MalaCards integrated aliases for Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum:

Name: Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum 57 72 29 6
Arthrogryposis Multiplex Congenita, Neurogenic, with Agenesis of the Corpus Callosum 57 72
Zain Syndrome 57 72
Amcnacc 57 72
Amc4 57 72
Arthrogryposis Multiplex Congenita, Neurogenic, with Agenesis of the Corpus Callosum; Amcnacc 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death in early childhood (in some patients)
two unrelated consanguineous middle eastern families have been reported (last curated february 2020)


HPO:

31
arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum:
Onset and clinical course death in infancy death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis...

UniProtKB/Swiss-Prot : 72 Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum: A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC4 is an autosomal recessive, severe form with onset in utero. Patients manifest little or no fetal movements, significant contractures affecting the upper and lower limbs, dysmorphic facial features, optic atrophy, limb fractures, profound global developmental delay, seizures, and peripheral neuropathy. Many patients die in early childhood.

MalaCards based summary : Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum, is also known as arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum. An important gene associated with Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum is SCYL2 (SCY1 Like Pseudokinase 2). Related phenotypes are spasticity and agenesis of corpus callosum

OMIM® : 57 Neurogenic arthrogryposis multiplex congenita-4 with agenesis of the corpus callosum (AMC4) is a severe neurologic disorder with onset in utero. Affected individuals show little or no fetal movements and are born with significant contractures affecting the upper and lower limbs, as well as dysmorphic facial features. Other abnormalities include globally impaired development, optic atrophy, agenesis of the corpus callosum, seizures, and peripheral neuropathy. Many patients die in early childhood (summary by Seidahmed et al., 2020). (618766) (Updated 05-Apr-2021)

Related Diseases for Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis...

Symptoms & Phenotypes for Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis...

Human phenotypes related to Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 very rare (1%) HP:0001257
2 agenesis of corpus callosum 31 very rare (1%) HP:0001274
3 short neck 31 very rare (1%) HP:0000470
4 global developmental delay 31 very rare (1%) HP:0001263
5 depressed nasal bridge 31 very rare (1%) HP:0005280
6 microcephaly 31 very rare (1%) HP:0000252
7 optic atrophy 31 very rare (1%) HP:0000648
8 feeding difficulties in infancy 31 very rare (1%) HP:0008872
9 prominent forehead 31 very rare (1%) HP:0011220
10 cryptorchidism 31 very rare (1%) HP:0000028
11 micrognathia 31 very rare (1%) HP:0000347
12 low-set ears 31 very rare (1%) HP:0000369
13 narrow mouth 31 very rare (1%) HP:0000160
14 polyhydramnios 31 very rare (1%) HP:0001561
15 areflexia 31 very rare (1%) HP:0001284
16 bulbous nose 31 very rare (1%) HP:0000414
17 decreased fetal movement 31 very rare (1%) HP:0001558
18 thin vermilion border 31 very rare (1%) HP:0000233
19 arthrogryposis multiplex congenita 31 very rare (1%) HP:0002804
20 rocker bottom foot 31 very rare (1%) HP:0001838
21 hand clenching 31 very rare (1%) HP:0001188
22 frontal cortical atrophy 31 very rare (1%) HP:0006913
23 parietal cortical atrophy 31 very rare (1%) HP:0012104
24 seizure 31 very rare (1%) HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
spasticity
cerebellar atrophy
cerebral atrophy
enlarged ventricles
more
Head And Neck Nose:
depressed nasal bridge
bulbous nose

Head And Neck Eyes:
optic atrophy

Genitourinary External Genitalia Male:
cryptorchidism

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skin Nails Hair Hair:
high anterior hairline

Skeletal Hands:
overlapping fingers
clenched hands

Head And Neck Mouth:
thin upper lip

Abdomen Gastrointestinal:
poor feeding

Skeletal Feet:
pes equinovarus
club foot
rocker bottom feet

Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly

Head And Neck Face:
prominent forehead
micrognathia
long philtrum

Head And Neck Ears:
low-set ears
abnormally folded ears

Skeletal Pelvis:
hip dislocation

Skeletal:
arthrogryposis multiplex congenita

Skeletal Limbs:
fractures of the long bones
joint contractures

Neurologic Peripheral Nervous System:
absent deep tendon reflexes

Growth Other:
poor overall growth

Prenatal Manifestations Movement:
reduced fetal movements

Clinical features from OMIM®:

618766 (Updated 05-Apr-2021)

Drugs & Therapeutics for Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis...

Search Clinical Trials , NIH Clinical Center for Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum

Genetic Tests for Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis...

Genetic tests related to Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum:

# Genetic test Affiliating Genes
1 Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum 29 SCYL2

Anatomical Context for Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis...

Publications for Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis...

Articles related to Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum:

# Title Authors PMID Year
1
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans. 6 57
31960134 2020
2
SCYL2 Protects CA3 Pyramidal Neurons from Excitotoxicity during Functional Maturation of the Mouse Hippocampus. 57
26203146 2015
3
A forward genetic screen identifies mutants deficient for mitochondrial complex I assembly in Chlamydomonas reinhardtii. 61
21467570 2011
4
A direct selection procedure for isolating yeast mutants with an impaired segregation of artificial minichromosomes. 61
2663183 1989

Variations for Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis...

ClinVar genetic disease variations for Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCYL2 NM_017988.6(SCYL2):c.106C>T (p.Arg36Ter) SNV Pathogenic 810843 GRCh37: 12:100676854-100676854
GRCh38: 12:100283076-100283076
2 SCYL2 NM_017988.6(SCYL2):c.1624dup (p.Val542fs) Duplication Pathogenic 810844 GRCh37: 12:100720512-100720513
GRCh38: 12:100326734-100326735

Expression for Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis...

Search GEO for disease gene expression data for Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum.

Pathways for Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis...

GO Terms for Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis...

Sources for Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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