PERCHING
MCID: PRC054
MIFTS: 34

Perching Syndrome (PERCHING)

Categories: Genetic diseases

Aliases & Classifications for Perching Syndrome

MalaCards integrated aliases for Perching Syndrome:

Name: Perching Syndrome 56 29 6
Crisponi/cold-Induced Sweating Syndrome 3, Formerly; Ciss3, Formerly 56
Crisponi/cold-Induced Sweating Syndrome 3, Formerly 56
Crisponi/cold-Induced Sweating Syndrome 3 73
Ciss3, Formerly 56
Perching 56
Ciss3 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset soon after birth
early death often occurs


HPO:

31
perching syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Perching Syndrome

OMIM : 56 PERCHING syndrome is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic facial features, feeding and respiratory difficulties with poor overall growth, axial hypotonia, and joint contractures. The features are variable, even within families, and may also include retinitis pigmentosa, cardiac or genitourinary anomalies, and abnormal sweating. Each letter of the PERCHING acronym represents 2 important phenotypic elements: Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations; and facial Gestalt/grimacing and Genitourinary abnormalities (Jeffries et al., 2019). Death in infancy or early childhood often occurs, although survival to the third decade has been reported. Some of the features, such as contractures, dysmorphic craniofacial features, and severe feeding difficulties, are reminiscent of Bohring-Opitz syndrome (605039) (summary by Kanthi et al., 2019 and Buers et al., 2020). (617055)

MalaCards based summary : Perching Syndrome, also known as crisponi/cold-induced sweating syndrome 3, formerly; ciss3, formerly, is related to papillomatosis, confluent and reticulated and myxozoa. An important gene associated with Perching Syndrome is KLHL7 (Kelch Like Family Member 7). Affiliated tissues include bone, eye and brain, and related phenotypes are rod-cone dystrophy and depressed nasal bridge

UniProtKB/Swiss-Prot : 73 Crisponi/Cold-induced sweating syndrome 3: A form of cold-induced sweating syndrome, an autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. These features are referred to as Crisponi syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis.

Related Diseases for Perching Syndrome

Diseases related to Perching Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 papillomatosis, confluent and reticulated 10.5
2 myxozoa 10.5
3 pneumonia 10.4
4 insulin-like growth factor i 10.3
5 keratosis 10.2
6 hypoxia 10.2
7 triiodothyronine receptor auxiliary protein 10.1
8 ectodermal dysplasia-syndactyly syndrome 2 10.1
9 sacral agenesis with vertebral anomalies 10.1
10 helix syndrome 10.1
11 fetal akinesia deformation sequence 2 10.1
12 pertussis 10.1
13 dermatitis 10.1
14 peritonitis 10.1
15 fatty liver disease 10.1
16 hair whorl 10.0
17 cystic fibrosis 10.0
18 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
19 resting heart rate, variation in 10.0
20 human immunodeficiency virus type 1 10.0
21 malaria 10.0
22 fatty liver disease, nonalcoholic 1 10.0
23 congenital short bowel syndrome 10.0
24 actn3 deficiency 10.0
25 erysipeloid 10.0
26 pain agnosia 10.0
27 scoliosis 10.0
28 bone disease 10.0
29 diphyllobothriasis 10.0
30 viral pneumonia 10.0
31 chlamydia 10.0
32 cholestasis 10.0
33 oral candidiasis 10.0
34 pericarditis 10.0
35 cholecystitis 10.0
36 glomerulonephritis 10.0
37 myelitis 10.0
38 fibrosarcoma 10.0
39 hyperglycemia 10.0
40 radiculopathy 10.0
41 diffuse glomerulonephritis 10.0
42 adenoma 10.0
43 anisakiasis 10.0
44 mite infestation 10.0
45 myocarditis 10.0
46 cataract 10.0
47 bacterial pneumonia 10.0
48 cholangitis 10.0
49 haemophilus influenzae 10.0
50 lymphosarcoma 10.0

Graphical network of the top 20 diseases related to Perching Syndrome:



Diseases related to Perching Syndrome

Symptoms & Phenotypes for Perching Syndrome

Human phenotypes related to Perching Syndrome:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 very rare (1%) HP:0000510
2 depressed nasal bridge 31 HP:0005280
3 fever 31 HP:0001945
4 dysphagia 31 HP:0002015
5 full cheeks 31 HP:0000293
6 feeding difficulties 31 HP:0011968
7 high palate 31 HP:0000218
8 respiratory distress 31 HP:0002098
9 camptodactyly 31 HP:0012385

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
spasticity
absent speech
hyperreflexia
poor head control
more
Head And Neck Eyes:
hypertelorism
nystagmus
strabismus
ptosis
astigmatism
more
Growth Other:
failure to thrive
intrauterine growth retardation

Abdomen Gastrointestinal:
dysphagia
tube feeding
feeding difficulties, severe

Head And Neck Ears:
low-set ears
posteriorly rotated ears
deafness (1 patient)

Skin Nails Hair Hair:
sparse hair
hirsutism

Head And Neck Mouth:
high-arched palate
abnormal contractions of the oropharyngeal muscles

Skeletal:
joint contractures

Muscle Soft Tissue:
axial hypotonia
peripheral hypertonia

Genitourinary:
genitourinary anomalies (in some patients)

Metabolic Features:
hyperthermia (patient a)
cold-induced sweating (patient a)

Head And Neck Nose:
depressed nasal bridge

Respiratory:
recurrent respiratory infections
respiratory difficulties

Head And Neck Face:
prominent forehead
full cheeks
retrognathia
micrognathia
triangular face
more
Genitourinary External Genitalia Male:
cryptorchidism
hypospadias

Genitourinary Bladder:
vesicoureteral reflux

Skeletal Hands:
camptodactyly
clinodactyly
clasped thumbs

Skeletal Feet:
overlapping toes
foot anomalies

Head And Neck Head:
small head circumference

Cardiovascular Heart:
septal defects (in some patients)

Skin Nails Hair Skin:
nevus flammeus, facial

Clinical features from OMIM:

617055

Drugs & Therapeutics for Perching Syndrome

Search Clinical Trials , NIH Clinical Center for Perching Syndrome

Genetic Tests for Perching Syndrome

Genetic tests related to Perching Syndrome:

# Genetic test Affiliating Genes
1 Perching Syndrome 29 KLHL7

Anatomical Context for Perching Syndrome

MalaCards organs/tissues related to Perching Syndrome:

40
Bone, Eye, Brain, Testes, Colon, Liver, Breast

Publications for Perching Syndrome

Articles related to Perching Syndrome:

(show top 50) (show all 285)
# Title Authors PMID Year
1
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. 6 56 61
30300710 2019
2
Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome. 6 56
30142437 2019
3
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. 56 6
29074562 2017
4
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. 56 6
27392078 2016
5
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. 56
31497877 2020
6
Prolactin-releasing peptide increases food intake and affects hypothalamic physiology in Japanese quail (Coturnix japonica). 61
32279041 2020
7
Foraging behaviour and diet in two sympatric shrike species during autumn migration across the Arabian Peninsula. 61
32489281 2020
8
Enhanced locomotor performance on familiar surfaces is uncoupled from morphological plasticity in Anolis lizards. 61
31994351 2020
9
Experimental evidence that matching habitat choice drives local adaptation in a wild population. 61
32429813 2020
10
Effects of Perching Surfaces and Foot Bandaging on Central Metatarsal Foot Pad Weight Loading of the Peregrine Falcon (Falco peregrinus). 61
32237677 2020
11
Minimal Effects of Rearing Enrichments on Pullet Behaviour and Welfare. 61
32085379 2020
12
Environmental planning crisis in urban Ghana: Local responses to nature's call. 61
31704399 2020
13
Effects of outdoor ranging on external and internal health parameters for hens from different rearing enrichments. 61
32185113 2020
14
Inferring lifestyle for Aves and Theropoda: A model based on curvatures of extant avian ungual bones. 61
32023255 2020
15
The endemic Mediterranean dwarf palm boosts the recolonization of old-fields: Implications for restoration. 61
31493700 2019
16
Biased movement drives local cryptic coloration on distinct urban pavements. 61
31575366 2019
17
Differential female sociality is linked with the fine-scale structure of sexual interactions in replicate groups of red junglefowl, Gallus gallus. 61
31615354 2019
18
Importance of bird traits for seed dispersal patterns of co-fruiting trees in a patchy forest. 61
30585442 2019
19
Birds land reliably on complex surfaces by adapting their foot-surface interactions upon contact. 61
31385573 2019
20
Short communication: The effects of regrouping in relation to fresh feed delivery in lactating Holstein cows. 61
31103298 2019
21
Are hybrid sit-stand postures a good compromise between sitting and standing? 61
30763145 2019
22
Seasonal plasticity in anti-predatory strategies: Matching of color and color preference for effective crypsis. 61
31171986 2019
23
The anatomy and histochemistry of flight hindlimb posture in birds. II. The flexed hindlimb posture of perching birds. 61
30860607 2019
24
Earth history and the passerine superradiation. 61
30936315 2019
25
Housing and Management Practices on 33 Pullet Farms in Canada. 61
30736364 2019
26
Oldest Finch-Beaked Birds Reveal Parallel Ecological Radiations in the Earliest Evolution of Passerines. 61
30744971 2019
27
Dairy cow preference for access to an outdoor pack in summer and winter. 61
30594367 2019
28
Linear Space Requirements and Perch Use of Conventional Layer Hybrids and Dual-Purpose Hens in an Aviary System. 61
31338373 2019
29
False head complexity and evidence of predator attacks in male and female hairstreak butterflies (Lepidoptera: Theclinae: Eumaeini) from Mexico. 61
31275751 2019
30
Spatial distribution, prevalence and diversity of haemosporidians in the rufous-collared sparrow, Zonotrichia capensis. 61
30606248 2019
31
Floral micromorphology of the bird-pollinated carnivorous plant species Utricularia menziesii R.Br. (Lentibulariaceae). 61
30169570 2019
32
Optimal trajectory generation for time-to-contact based aerial robotic perching. 61
30479312 2018
33
Anatomy of the forelimb musculature and ligaments of Psittacus erithacus (Aves: Psittaciformes). 61
30033585 2018
34
Bird on the wire: Landscape planning considering costs and benefits for bird populations coexisting with power lines. 61
29478183 2018
35
Deceptive signals and behaviors of a cleptoparasitic beetle show local adaptation to different host bee species. 61
30201716 2018
36
Effects of metritis on stall use and social behavior at the lying stall. 61
29885890 2018
37
Shelter housing for cats: Principles of design for health, welfare and rehoming. 61
29989500 2018
38
Appetite-associated responses to central neuropeptide Y injection in quail. 61
29573813 2018
39
Vision and genesis of survival strategies in tsetse flies: A laboratory study. 61
29649484 2018
40
Global macroevolution and macroecology of passerine song. 61
29441527 2018
41
Porches as Enrichment for Singly Housed Cynomolgus Macaques (Macaca fascicularis). 61
29555002 2018
42
CLINICOPATHOLOGIC FEATURES OF INFECTION WITH NOVEL BRUCELLA ORGANISMS IN CAPTIVE WAXY TREE FROGS ( PHYLLOMEDUSA SAUVAGII) AND COLORADO RIVER TOADS ( INCILIUS ALVARIUS). 61
29517430 2018
43
The Physical Clogging of the Landfill Leachate Collection System in China: Based on Filtration Test and Numerical Modelling. 61
29439538 2018
44
Black Border Increases Stomoxys calcitrans Catch on White Sticky Traps. 61
29393889 2018
45
Dairy cow preference for different types of outdoor access. 61
29224875 2018
46
Space use by 4 strains of laying hens to perch, wing flap, dust bathe, stand and lie down. 61
29304059 2018
47
Systematics and phylogeny of the Zygodactylidae (Aves, Neognathae) with description of a new species from the early Eocene of Wyoming, USA. 61
29967716 2018
48
The Influence of Keel Bone Damage on Welfare of Laying Hens. 61
29541640 2018
49
Cities may save some threatened species but not their ecological functions. 61
29942675 2018
50
Finds of fragmentary bird skeletons in the Middle Miocene of the northern Caucasus. 61
29299810 2017

Variations for Perching Syndrome

ClinVar genetic disease variations for Perching Syndrome:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KLHL7 NM_001031710.3(KLHL7):c.1051C>T (p.Arg351Ter)SNV Pathogenic 804273 7:23205431-23205431 7:23165812-23165812
2 KLHL7 NM_001031710.3(KLHL7):c.565C>T (p.Arg189Ter)SNV Pathogenic 816804 7:23180510-23180510 7:23140891-23140891
3 KLHL7 NM_001031710.3(KLHL7):c.1022del (p.Leu341fs)deletion Pathogenic 226129 rs879255557 7:23205399-23205399 7:23165780-23165780
4 KLHL7 NM_001031710.3(KLHL7):c.1115G>A (p.Arg372Gln)SNV Pathogenic 226130 rs879255558 7:23205495-23205495 7:23165876-23165876
5 KLHL7 NM_001031710.3(KLHL7):c.1261T>A (p.Cys421Ser)SNV Pathogenic 226127 rs879255556 7:23207538-23207538 7:23167919-23167919
6 KLHL7 NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter)SNV Pathogenic/Likely pathogenic 279824 rs77078070 7:23205356-23205356 7:23165737-23165737
7 KLHL7 NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys)SNV Pathogenic/Likely pathogenic 226128 rs780705654 7:23207535-23207535 7:23167916-23167916
8 KLHL7 NM_001031710.3(KLHL7):c.618+1G>ASNV Likely pathogenic 487514 rs1554289078 7:23180564-23180564 7:23140945-23140945
9 KLHL7 NM_001031710.3(KLHL7):c.178_180GTT[1] (p.Val61del)short repeat Conflicting interpretations of pathogenicity 430626 rs1554286093 7:23163452-23163454 7:23123833-23123835
10 KLHL7 NM_001031710.3(KLHL7):c.121-5814A>GSNV Benign 802301 7:23157582-23157582 7:23117963-23117963
11 KLHL7 NM_001031710.3(KLHL7):c.936+3731_936+3735deldeletion Benign 802302 7:23195556-23195560 7:23155937-23155941
12 KLHL7 NM_001031710.3(KLHL7):c.352C>T (p.Leu118=)SNV Benign 359798 rs15775 7:23164701-23164701 7:23125082-23125082

UniProtKB/Swiss-Prot genetic disease variations for Perching Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 KLHL7 p.Arg372Gln VAR_077161 rs879255558
2 KLHL7 p.Arg420Cys VAR_077162 rs780705654
3 KLHL7 p.Cys421Ser VAR_077163 rs879255556

Expression for Perching Syndrome

Search GEO for disease gene expression data for Perching Syndrome.

Pathways for Perching Syndrome

GO Terms for Perching Syndrome

Sources for Perching Syndrome

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
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