AMCNACC
MCID: ART162
MIFTS: 20

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

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

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

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

Name: Arthrogryposis Multiplex Congenita, Neurogenic, with Agenesis of the Corpus Callosum 56 73 6
Amcnacc 56 73
Zain Syndrome 56

Characteristics:

OMIM:

56
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, neurogenic, with agenesis of the corpus callosum:
Clinical modifier death in infancy death in childhood
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 73 Arthrogryposis multiplex congenita, 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. AMCNACC 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, Neurogenic, with Agenesis of the Corpus Callosum, is also known as amcnacc. An important gene associated with Arthrogryposis Multiplex Congenita, Neurogenic, with Agenesis of the Corpus Callosum is SCYL2 (SCY1 Like Pseudokinase 2). Affiliated tissues include bone, and related phenotypes are global developmental delay and depressed nasal bridge

OMIM : 56 Neurogenic arthrogryposis multiplex congenita with agenesis of the corpus callosum (AMCNACC) 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)

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

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

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

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 depressed nasal bridge 31 very rare (1%) HP:0005280
3 short neck 31 very rare (1%) HP:0000470
4 microcephaly 31 very rare (1%) HP:0000252
5 optic atrophy 31 very rare (1%) HP:0000648
6 feeding difficulties in infancy 31 very rare (1%) HP:0008872
7 spasticity 31 very rare (1%) HP:0001257
8 prominent forehead 31 very rare (1%) HP:0011220
9 narrow mouth 31 very rare (1%) HP:0000160
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 polyhydramnios 31 very rare (1%) HP:0001561
14 areflexia 31 very rare (1%) HP:0001284
15 bulbous nose 31 very rare (1%) HP:0000414
16 agenesis of corpus callosum 31 very rare (1%) HP:0001274
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:

56
Head And Neck Nose:
depressed nasal bridge
bulbous nose

Neurologic Central Nervous System:
seizures
spasticity
cerebellar atrophy
cerebral atrophy
enlarged ventricles
more
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

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

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

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

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

MalaCards organs/tissues related to Arthrogryposis Multiplex Congenita, Neurogenic, with Agenesis of the Corpus Callosum:

40
Bone

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

Articles related to Arthrogryposis Multiplex Congenita, 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. 56 6
31960134 2020
2
SCYL2 Protects CA3 Pyramidal Neurons from Excitotoxicity during Functional Maturation of the Mouse Hippocampus. 56
26203146 2015

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

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

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

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

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

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

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

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

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