CLIFAHDD
MCID: CNG437
MIFTS: 23

Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD)

Categories: Genetic diseases

Aliases & Classifications for Congenital Contractures of the Limbs and Face, Hypotonia, and...

MalaCards integrated aliases for Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay:

Name: Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay 57 75 29 6
Clifahdd 57 75
Contractures, Limbs and Face, Congenital, Hypotonia, and Developmental Delay 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
all reported mutations have occurred de novo


HPO:

32
congenital contractures of the limbs and face, hypotonia, and developmental delay:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Congenital Contractures of the Limbs and Face, Hypotonia, and...

UniProtKB/Swiss-Prot : 75 Congenital contractures of the limbs and face, hypotonia, and developmental delay: A disease characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, abnormal tone, most commonly manifested as hypotonia, and variable degrees of developmental delay.

MalaCards based summary : Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay, also known as clifahdd, is related to congenital contractures and hypotonia. An important gene associated with Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay is NALCN (Sodium Leak Channel, Non-Selective). Related phenotypes are short neck and respiratory insufficiency

OMIM : 57 CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015). (616266)

Related Diseases for Congenital Contractures of the Limbs and Face, Hypotonia, and...

Diseases related to Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital contractures 10.3
2 hypotonia 10.3

Symptoms & Phenotypes for Congenital Contractures of the Limbs and Face, Hypotonia, and...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Abdomen External Features:
umbilical hernia

Head And Neck Mouth:
pursed lips

Skeletal Hands:
camptodactyly
ulnar deviation
adducted thumbs

Skeletal Spine:
scoliosis (in some patients)

Skeletal Limbs:
elbow contractures
knee contractures

Skeletal:
congenital contractures

Abdomen Gastrointestinal:
gastroesophageal reflux disease (in some patients)

Muscle Soft Tissue:
inguinal hernia
hypotonia

Head And Neck Face:
full cheeks
long philtrum
micrognathia
h-shaped chin dimple
deep nasolabial folds

Head And Neck Nose:
short columella
broad nasal bridge
anteverted nasal tip
large nares

Neurologic Central Nervous System:
delayed psychomotor development
speech delay
cerebellar atrophy (in some patients)
cerebral atrophy (in some patients)
seizure-like activity (in some patients)

Skeletal Feet:
positional foot deformities

Skeletal Pelvis:
hip contractures

Respiratory:
respiratory insufficiency (newborn period)
abnormal respiratory pattern (newborn period)


Clinical features from OMIM:

616266

Human phenotypes related to Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 respiratory insufficiency 32 HP:0002093
3 scoliosis 32 occasional (7.5%) HP:0002650
4 inguinal hernia 32 HP:0000023
5 global developmental delay 32 HP:0001263
6 wide nasal bridge 32 HP:0000431
7 delayed speech and language development 32 HP:0000750
8 umbilical hernia 32 HP:0001537
9 gastroesophageal reflux 32 occasional (7.5%) HP:0002020
10 full cheeks 32 HP:0000293
11 long philtrum 32 HP:0000343
12 micrognathia 32 HP:0000347
13 elbow flexion contracture 32 HP:0002987
14 adducted thumb 32 HP:0001181
15 pursed lips 32 HP:0000205
16 hip contracture 32 HP:0003273
17 cerebellar atrophy 32 occasional (7.5%) HP:0001272
18 generalized hypotonia 32 HP:0001290
19 cerebral atrophy 32 occasional (7.5%) HP:0002059
20 short columella 32 HP:0002000
21 knee flexion contracture 32 HP:0006380
22 camptodactyly 32 HP:0012385
23 congenital contracture 32 HP:0002803
24 enlarged naris 32 HP:0009931

Drugs & Therapeutics for Congenital Contractures of the Limbs and Face, Hypotonia, and...

Search Clinical Trials , NIH Clinical Center for Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Genetic Tests for Congenital Contractures of the Limbs and Face, Hypotonia, and...

Genetic tests related to Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay:

# Genetic test Affiliating Genes
1 Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay 29 NALCN

Anatomical Context for Congenital Contractures of the Limbs and Face, Hypotonia, and...

Publications for Congenital Contractures of the Limbs and Face, Hypotonia, and...

Articles related to Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay:

# Title Authors Year
1
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. ( 25683120 )
2015

Variations for Congenital Contractures of the Limbs and Face, Hypotonia, and...

UniProtKB/Swiss-Prot genetic disease variations for Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay:

75
# Symbol AA change Variation ID SNP ID
1 NALCN p.Gln177Pro VAR_073361 rs786203984
2 NALCN p.Leu312Ile VAR_073362 rs878853134
3 NALCN p.Val313Gly VAR_073363 rs786203985
4 NALCN p.Leu509Ser VAR_073364 rs786203987
5 NALCN p.Tyr578Ser VAR_073365 rs786203988
6 NALCN p.Leu590Phe VAR_073366 rs786203986
7 NALCN p.Thr1165Pro VAR_073367 rs878853128
8 NALCN p.Ile1446Met VAR_073368 rs878853127

ClinVar genetic disease variations for Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay:

6 (show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 NALCN NM_052867.3(NALCN): c.530A> C (p.Gln177Pro) single nucleotide variant Pathogenic rs786203984 GRCh37 Chromosome 13, 102029165: 102029165
2 NALCN NM_052867.3(NALCN): c.530A> C (p.Gln177Pro) single nucleotide variant Pathogenic rs786203984 GRCh38 Chromosome 13, 101376814: 101376814
3 NALCN NM_052867.3(NALCN): c.938T> G (p.Val313Gly) single nucleotide variant Pathogenic rs786203985 GRCh37 Chromosome 13, 101944579: 101944579
4 NALCN NM_052867.3(NALCN): c.938T> G (p.Val313Gly) single nucleotide variant Pathogenic rs786203985 GRCh38 Chromosome 13, 101292228: 101292228
5 NALCN NM_052867.3(NALCN): c.1768C> T (p.Leu590Phe) single nucleotide variant Pathogenic rs786203986 GRCh37 Chromosome 13, 101828722: 101828722
6 NALCN NM_052867.3(NALCN): c.1768C> T (p.Leu590Phe) single nucleotide variant Pathogenic rs786203986 GRCh38 Chromosome 13, 101176371: 101176371
7 NALCN NM_052867.3(NALCN): c.1526T> C (p.Leu509Ser) single nucleotide variant Pathogenic rs786203987 GRCh37 Chromosome 13, 101881844: 101881844
8 NALCN NM_052867.3(NALCN): c.1526T> C (p.Leu509Ser) single nucleotide variant Pathogenic rs786203987 GRCh38 Chromosome 13, 101229493: 101229493
9 NALCN NM_052867.3(NALCN): c.1733A> C (p.Tyr578Ser) single nucleotide variant Pathogenic rs786203988 GRCh37 Chromosome 13, 101844299: 101844299
10 NALCN NM_052867.3(NALCN): c.1733A> C (p.Tyr578Ser) single nucleotide variant Pathogenic rs786203988 GRCh38 Chromosome 13, 101191948: 101191948
11 NALCN NM_052867.3(NALCN): c.3542G> A (p.Arg1181Gln) single nucleotide variant Pathogenic rs786201003 GRCh37 Chromosome 13, 101736103: 101736103
12 NALCN NM_052867.3(NALCN): c.3542G> A (p.Arg1181Gln) single nucleotide variant Pathogenic rs786201003 GRCh38 Chromosome 13, 101083752: 101083752
13 NALCN NM_052867.3(NALCN): c.4338T> G (p.Ile1446Met) single nucleotide variant Pathogenic rs878853127 GRCh38 Chromosome 13, 101068026: 101068026
14 NALCN NM_052867.3(NALCN): c.4338T> G (p.Ile1446Met) single nucleotide variant Pathogenic rs878853127 GRCh37 Chromosome 13, 101720378: 101720378
15 NALCN NM_052867.3(NALCN): c.3493A> C (p.Thr1165Pro) single nucleotide variant Pathogenic rs878853128 GRCh38 Chromosome 13, 101083801: 101083801
16 NALCN NM_052867.3(NALCN): c.3493A> C (p.Thr1165Pro) single nucleotide variant Pathogenic rs878853128 GRCh37 Chromosome 13, 101736152: 101736152
17 NALCN NM_052867.3(NALCN): c.3050T> C (p.Ile1017Thr) single nucleotide variant Pathogenic rs878853129 GRCh37 Chromosome 13, 101755530: 101755530
18 NALCN NM_052867.3(NALCN): c.3050T> C (p.Ile1017Thr) single nucleotide variant Pathogenic rs878853129 GRCh38 Chromosome 13, 101103179: 101103179
19 NALCN NM_052867.3(NALCN): c.3017T> C (p.Val1006Ala) single nucleotide variant Pathogenic rs878853130 GRCh38 Chromosome 13, 101103212: 101103212
20 NALCN NM_052867.3(NALCN): c.3017T> C (p.Val1006Ala) single nucleotide variant Pathogenic rs878853130 GRCh37 Chromosome 13, 101755563: 101755563
21 NALCN NM_052867.3(NALCN): c.1538C> A (p.Thr513Asn) single nucleotide variant Pathogenic rs878853131 GRCh37 Chromosome 13, 101881832: 101881832
22 NALCN NM_052867.3(NALCN): c.1538C> A (p.Thr513Asn) single nucleotide variant Pathogenic rs878853131 GRCh38 Chromosome 13, 101229481: 101229481
23 NALCN NM_052867.3(NALCN): c.1534T> G (p.Phe512Val) single nucleotide variant Pathogenic rs878853132 GRCh38 Chromosome 13, 101229485: 101229485
24 NALCN NM_052867.3(NALCN): c.1534T> G (p.Phe512Val) single nucleotide variant Pathogenic rs878853132 GRCh37 Chromosome 13, 101881836: 101881836
25 NALCN NM_052867.3(NALCN): c.979G> A (p.Glu327Lys) single nucleotide variant Pathogenic rs878853133 GRCh37 Chromosome 13, 101944409: 101944409
26 NALCN NM_052867.3(NALCN): c.979G> A (p.Glu327Lys) single nucleotide variant Pathogenic rs878853133 GRCh38 Chromosome 13, 101292058: 101292058
27 NALCN NM_052867.3(NALCN): c.934C> A (p.Leu312Ile) single nucleotide variant Pathogenic rs878853134 GRCh38 Chromosome 13, 101292232: 101292232
28 NALCN NM_052867.3(NALCN): c.934C> A (p.Leu312Ile) single nucleotide variant Pathogenic rs878853134 GRCh37 Chromosome 13, 101944583: 101944583
29 NALCN NM_052867.3(NALCN): c.985A> G (p.Arg329Gly) single nucleotide variant Likely pathogenic rs1057516040 GRCh37 Chromosome 13, 101944403: 101944403
30 NALCN NM_052867.3(NALCN): c.985A> G (p.Arg329Gly) single nucleotide variant Likely pathogenic rs1057516040 GRCh38 Chromosome 13, 101292052: 101292052
31 NALCN NM_052867.3(NALCN): c.1639A> G (p.Met547Val) single nucleotide variant Pathogenic rs1057519432 GRCh38 Chromosome 13, 101192042: 101192042
32 NALCN NM_052867.3(NALCN): c.1639A> G (p.Met547Val) single nucleotide variant Pathogenic rs1057519432 GRCh37 Chromosome 13, 101844393: 101844393
33 NALCN NM_052867.3(NALCN): c.965T> C (p.Ile322Thr) single nucleotide variant Pathogenic rs1057519433 GRCh38 Chromosome 13, 101292072: 101292072
34 NALCN NM_052867.3(NALCN): c.965T> C (p.Ile322Thr) single nucleotide variant Pathogenic rs1057519433 GRCh37 Chromosome 13, 101944423: 101944423
35 NALCN NM_052867.3(NALCN): c.1675G> C (p.Val559Leu) single nucleotide variant Uncertain significance rs758646676 GRCh37 Chromosome 13, 101844357: 101844357
36 NALCN NM_052867.3(NALCN): c.1675G> C (p.Val559Leu) single nucleotide variant Uncertain significance rs758646676 GRCh38 Chromosome 13, 101192006: 101192006
37 NALCN NM_052867.3(NALCN): c.3064A> G (p.Ile1022Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome 13, 101753233: 101753233
38 NALCN NM_052867.3(NALCN): c.3064A> G (p.Ile1022Val) single nucleotide variant Likely pathogenic GRCh38 Chromosome 13, 101100882: 101100882

Expression for Congenital Contractures of the Limbs and Face, Hypotonia, and...

Search GEO for disease gene expression data for Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay.

Pathways for Congenital Contractures of the Limbs and Face, Hypotonia, and...

GO Terms for Congenital Contractures of the Limbs and Face, Hypotonia, and...

Sources for Congenital Contractures of the Limbs and Face, Hypotonia, and...

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