CCFDN
MCID: CNG041
MIFTS: 32

Congenital Cataracts, Facial Dysmorphism, and Neuropathy (CCFDN)

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

Aliases & Classifications for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

MalaCards integrated aliases for Congenital Cataracts, Facial Dysmorphism, and Neuropathy:

Name: Congenital Cataracts, Facial Dysmorphism, and Neuropathy 58 25 26 76 38 30 13 6 74
Ccfdn 58 25 26 60 76
Cataract, Congenital, with Facial Dysmorphism and Neuropathy 58
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome 60
Cataracts, Congenital, Facial Dysmorphism, and Neuropathy 41

Characteristics:

Orphanet epidemiological data:

60
congenital cataracts-facial dysmorphism-neuropathy syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
neuropathy becomes apparent in childhood
prevalent in bulgarian gypsies
distinct disorder from marinesco-sjogren syndrome (mss, )


HPO:

33
congenital cataracts, facial dysmorphism, and neuropathy:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

UniProtKB/Swiss-Prot : 76 Congenital cataracts, facial dysmorphism, and neuropathy: An autosomal recessive developmental disorder characterized by a complex clinical phenotype with seemingly unrelated features involving multiple organs and systems. Developmental abnormalities include congenital cataracts and microcorneae, hypomyelination of the peripheral nervous system, impaired physical growth, delayed early motor and intellectual development, facial dysmorphism and hypogonadism. Central nervous system involvement, with cerebral and spinal cord atrophy, may be the result of disrupted development with superimposed degenerative changes. Affected individuals are prone to severe rhabdomyolysis after viral infections and to serious complications related to general anesthesia (such as pulmonary edema and epileptic seizures).

MalaCards based summary : Congenital Cataracts, Facial Dysmorphism, and Neuropathy, also known as ccfdn, is related to marinesco-sjogren syndrome and neuropathy, and has symptoms including ataxia and abnormal pyramidal signs. An important gene associated with Congenital Cataracts, Facial Dysmorphism, and Neuropathy is CTDP1 (CTD Phosphatase Subunit 1). Affiliated tissues include eye, spinal cord and testes, and related phenotypes are nystagmus and cataract

Genetics Home Reference : 26 Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. It is characterized by a clouding of the lens of the eyes at birth (congenital cataracts) and other eye abnormalities, such as small or poorly developed eyes (microphthalmia) and abnormal eye movements (nystagmus). Affected individuals, particularly males, often have distinctive facial features that become more apparent as they reach adulthood. These features include a prominent midface, a large nose, protruding teeth, and a small lower jaw.

OMIM : 58 Congenital cataracts, facial dysmorphism, and neuropathy is an autosomal recessive disorder that is prevalent among Bulgarian Gypsies. Additional features include delayed psychomotor development, skeletal anomalies, and hypogonadism. The predominantly motor neuropathy becomes evident during childhood and progresses to severe disability by the third decade (Tournev et al., 1999). CCFDN is genetically distinct from Marinesco-Sjogren syndrome (MSS; 248800), although the 2 disorders share some overlapping features, including congenital cataracts, delayed psychomotor development, and ataxia (Merlini et al., 2002). (604168)

GeneReviews: NBK25565

Related Diseases for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

Diseases related to Congenital Cataracts, Facial Dysmorphism, and Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 marinesco-sjogren syndrome 11.3
2 neuropathy 10.4
3 cataract 10.4
4 myoglobinuria 10.1

Symptoms & Phenotypes for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

Human phenotypes related to Congenital Cataracts, Facial Dysmorphism, and Neuropathy:

60 33 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 cataract 60 33 hallmark (90%) Very frequent (99-80%) HP:0000518
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 abnormality of peripheral nerve conduction 60 33 hallmark (90%) Very frequent (99-80%) HP:0003134
5 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
6 intellectual disability, mild 60 33 hallmark (90%) Very frequent (99-80%) HP:0001256
7 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
8 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
9 dysmetria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001310
10 intention tremor 60 33 hallmark (90%) Very frequent (99-80%) HP:0002080
11 hypogonadotrophic hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000044
12 paresthesia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003401
13 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
14 malar prominence 60 33 hallmark (90%) Very frequent (99-80%) HP:0010620
15 motor axonal neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0007002
16 osteoporosis 60 33 frequent (33%) Frequent (79-30%) HP:0000939
17 hypoglycemia 60 33 frequent (33%) Frequent (79-30%) HP:0001943
18 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
19 cerebral cortical atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002120
20 microphthalmia 60 33 frequent (33%) Frequent (79-30%) HP:0000568
21 long eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0000527
22 abnormality of the cervical spine 60 33 frequent (33%) Frequent (79-30%) HP:0003319
23 acute rhabdomyolysis 60 33 frequent (33%) Frequent (79-30%) HP:0008942
24 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
25 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
26 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
27 microcornea 60 33 occasional (7.5%) Occasional (29-5%) HP:0000482
28 primary amenorrhea 33 occasional (7.5%) HP:0000786
29 decreased testicular size 33 occasional (7.5%) HP:0008734
30 abnormal pyramidal sign 33 occasional (7.5%) HP:0007256
31 ataxia 60 33 Very frequent (99-80%) HP:0001251
32 intellectual disability 33 HP:0001249
33 chorea 33 HP:0002072
34 abnormal pyramidal signs 60 Occasional (29-5%)
35 abnormality of the dentition 33 HP:0000164
36 abnormal facial shape 33 HP:0001999
37 cognitive impairment 33 HP:0100543
38 sensory neuropathy 60 Very frequent (99-80%)
39 genu recurvatum 33 HP:0002816
40 babinski sign 33 HP:0003487
41 pes cavus 33 HP:0001761
42 decreased motor nerve conduction velocity 33 HP:0003431
43 motor delay 33 HP:0001270
44 talipes equinovarus 33 HP:0001762
45 kyphoscoliosis 33 HP:0002751
46 hypergonadotropic hypogonadism 33 HP:0000815
47 split hand 33 HP:0001171
48 peripheral demyelination 33 HP:0011096
49 decreased serum estradiol 33 HP:0008214
50 cerebral atrophy 33 HP:0002059

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
congenital cataracts
microcorneas

Growth Height:
short stature

Skeletal Feet:
pes cavus
talipes equinovarus

Skeletal Spine:
kyphoscoliosis

Neurologic Peripheral Nervous System:
decreased motor nerve conduction velocities (ncv)
demyelination
motor neuropathy beginning in lower limbs
upper limb motor neuropathy occurs later
nerve biopsy shows hypomyelination
more
Head And Neck Teeth:
bimaxillary dentoalveolar protrusion (protruding upper and lower front teeth)

Genitourinary Internal Genitalia Female:
primary amenorrhea (in some patients)

Neurologic Central Nervous System:
ataxia
chorea
cerebral atrophy
delayed motor development
mental retardation
more
Skeletal Limbs:
genu recurvatum

Endocrine Features:
hypogonadotrophic hypogonadism
decreased serum estradiol
hypergonadotrophic hypogonadism
decreased serum testosterone
low-to-normal serum growth hormone

Head And Neck Face:
facial dysmorphism
prominent midface
thickening of perioral tissues
mandibular retrognathism

Skeletal Hands:
claw hand

Genitourinary Internal Genitalia Male:
small testes (in some patients)

Muscle Soft Tissue:
rhabdomyolysis, acute

Clinical features from OMIM:

604168

UMLS symptoms related to Congenital Cataracts, Facial Dysmorphism, and Neuropathy:


ataxia, abnormal pyramidal signs

Drugs & Therapeutics for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History in CCFDN and IBM Syndromes Completed NCT01902940

Search NIH Clinical Center for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

Genetic Tests for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

Genetic tests related to Congenital Cataracts, Facial Dysmorphism, and Neuropathy:

# Genetic test Affiliating Genes
1 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 30 CTDP1

Anatomical Context for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

MalaCards organs/tissues related to Congenital Cataracts, Facial Dysmorphism, and Neuropathy:

42
Eye, Spinal Cord, Testes

Publications for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

Articles related to Congenital Cataracts, Facial Dysmorphism, and Neuropathy:

# Title Authors Year
1
Anaesthesia and orphan disease: A child with Congenital Cataract Facial Dysmorphism neuropathy (CCFDN) syndrome: a case report. ( 28141735 )
2017
2
Congenital Cataracts, Facial Dysmorphism, and Neuropathy Syndrome: Additional Clinical Features. ( 28041656 )
2016
3
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies. ( 24690360 )
2014
4
Long-term follow-up in patients with CCFDN syndrome. ( 25186864 )
2014
5
Congenital cataracts, facial dysmorphism, and neuropathy syndrome. ( 21824574 )
2011
6
Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN). ( 20350809 )
2010
7
Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP. ( 20512157 )
2010
8
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes. ( 11805249 )
2002
9
Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome. ( 10442556 )
1999
10
Congenital Cataracts, Facial Dysmorphism, and Neuropathy ( 20301787 )
1993

Variations for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

ClinVar genetic disease variations for Congenital Cataracts, Facial Dysmorphism, and Neuropathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CTDP1 NM_004715.4(CTDP1): c.863+389C> T single nucleotide variant Pathogenic rs113994102 GRCh37 Chromosome 18, 77470825: 77470825
2 CTDP1 NM_004715.4(CTDP1): c.863+389C> T single nucleotide variant Pathogenic rs113994102 GRCh38 Chromosome 18, 79710825: 79710825
3 CTDP1 NM_004715.4(CTDP1): c.2817T> C (p.Asp939=) single nucleotide variant Benign rs626169 GRCh37 Chromosome 18, 77513721: 77513721
4 CTDP1 NM_004715.4(CTDP1): c.2817T> C (p.Asp939=) single nucleotide variant Benign rs626169 GRCh38 Chromosome 18, 79753721: 79753721
5 CTDP1 NM_004715.4(CTDP1): c.1461G> A (p.Pro487=) single nucleotide variant Benign rs2126082 GRCh37 Chromosome 18, 77474921: 77474921
6 CTDP1 NM_004715.4(CTDP1): c.1461G> A (p.Pro487=) single nucleotide variant Benign rs2126082 GRCh38 Chromosome 18, 79714921: 79714921
7 CTDP1 NM_004715.4(CTDP1): c.978G> A (p.Thr326=) single nucleotide variant Benign rs599554 GRCh37 Chromosome 18, 77473086: 77473086
8 CTDP1 NM_004715.4(CTDP1): c.978G> A (p.Thr326=) single nucleotide variant Benign rs599554 GRCh38 Chromosome 18, 79713086: 79713086

Expression for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

Search GEO for disease gene expression data for Congenital Cataracts, Facial Dysmorphism, and Neuropathy.

Pathways for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

GO Terms for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

Sources for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

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75 UMLS via Orphanet
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