RHYNS
MCID: RHY001
MIFTS: 35

Rhyns Syndrome (RHYNS)

Categories: Bone diseases, Eye diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Rhyns Syndrome

MalaCards integrated aliases for Rhyns Syndrome:

Name: Rhyns Syndrome 58 54 60 76 6 41 74
Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis, and Mild Skeletal Dysplasia 58 54
Retinitis Pigmentosa Syndrome 58 54
Rhyns 58 76
Retinitis Pigmentosa-Hypopituitarism-Nephronophthisis-Skeletal Dysplasia Syndrome 60
Retinitis Pigmentosa ) 41
Ciliopathies 45
Ciliopathy 17

Characteristics:

Orphanet epidemiological data:

60
rhyns syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of one patient (last curated november 2018)


Classifications:



Summaries for Rhyns Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 140976Disease definitionRHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.EpidemiologySo far, it has been described in four males.Genetic counselingAutosomal recessive transmission is likely but an X-linked mode of inheritance cannot be excluded.Visit the Orphanet disease page for more resources.

MalaCards based summary : Rhyns Syndrome, also known as retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia, is related to retinitis pigmentosa 3 and retinitis pigmentosa 2. An important gene associated with Rhyns Syndrome is TMEM67 (Transmembrane Protein 67). Affiliated tissues include kidney, bone and heart, and related phenotypes are ptosis and rod-cone dystrophy

OMIM : 58 RHYNS syndrome is characterized by gaze palsy, retinitis pigmentosa, sensorineural hearing loss, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (Di Rocco et al., 1997). (602152)

UniProtKB/Swiss-Prot : 76 RHYNS syndrome: An autosomal recessive syndrome characterized by gaze palsy, retinitis pigmentosa, sensorineural hearing loss, hypopituitarism, nephronophthisis, and skeletal dysplasia.

Related Diseases for Rhyns Syndrome

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

(showing 638, show less)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 3 12.6
2 retinitis pigmentosa 2 12.5
3 retinitis pigmentosa 7 12.5
4 retinitis pigmentosa 4 12.5
5 retinitis pigmentosa 50 12.5
6 retinitis pigmentosa 1 12.5
7 retinitis pigmentosa 11 12.5
8 retinitis pigmentosa 9 12.5
9 retinitis pigmentosa 38 12.5
10 retinitis pigmentosa 14 12.5
11 retinitis pigmentosa 10 12.5
12 retinitis pigmentosa 46 12.5
13 retinitis pigmentosa 67 12.5
14 retinitis pigmentosa 13 12.5
15 retinitis pigmentosa 17 12.5
16 retinitis pigmentosa 28 12.5
17 retinitis pigmentosa 12 12.5
18 retinitis pigmentosa 18 12.5
19 retinitis pigmentosa 30 12.5
20 retinitis pigmentosa 25 12.5
21 retinitis pigmentosa 33 12.5
22 retinitis pigmentosa 19 12.5
23 retinitis pigmentosa 26 12.5
24 retinitis pigmentosa 31 12.5
25 retinitis pigmentosa 36 12.5
26 retinitis pigmentosa 20 12.5
27 retinitis pigmentosa 41 12.5
28 retinitis pigmentosa 57 12.5
29 retinitis pigmentosa 27 12.5
30 retinitis pigmentosa 45 12.5
31 retinitis pigmentosa 43 12.5
32 retinitis pigmentosa 42 12.5
33 retinitis pigmentosa 51 12.5
34 retinitis pigmentosa 23 12.5
35 retinitis pigmentosa 54 12.5
36 retinitis pigmentosa 58 12.5
37 retinitis pigmentosa 59 12.5
38 retinitis pigmentosa 62 12.5
39 retinitis pigmentosa 55 12.5
40 retinitis pigmentosa 49 12.5
41 retinitis pigmentosa 47 12.5
42 retinitis pigmentosa 44 12.5
43 retinitis pigmentosa 48 12.5
44 retinitis pigmentosa 60 12.5
45 retinitis pigmentosa 39 12.5
46 retinitis pigmentosa 82 with or without situs inversus 12.5
47 retinitis pigmentosa 40 12.5
48 retinitis pigmentosa 37 12.5
49 retinitis pigmentosa 66 12.5
50 retinitis pigmentosa 56 12.5
51 retinitis pigmentosa 61 12.5
52 retinitis pigmentosa 68 12.5
53 retinitis pigmentosa 70 12.5
54 retinitis pigmentosa 75 12.5
55 retinitis pigmentosa 72 12.5
56 retinitis pigmentosa 73 12.5
57 retinitis pigmentosa 77 12.5
58 retinitis pigmentosa 74 12.4
59 short stature, hearing loss, retinitis pigmentosa, and distinctive facies 12.4
60 retinitis pigmentosa 6 12.4
61 retinitis pigmentosa 76 12.4
62 retinitis pigmentosa 79 12.4
63 retinitis pigmentosa 24 12.4
64 retinitis pigmentosa 69 12.4
65 retinitis pigmentosa 83 12.4
66 retinitis pigmentosa 84 12.4
67 retinitis pigmentosa 35 12.4
68 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 12.4
69 intellectual developmental disorder and retinitis pigmentosa 12.4
70 retinitis pigmentosa and erythrocytic microcytosis 12.4
71 retinitis pigmentosa, late-adult onset 12.4
72 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 12.4
73 retinitis pigmentosa 22 12.4
74 retinitis pigmentosa 71 12.4
75 retinitis pigmentosa 81 12.3
76 retinitis pigmentosa 29 12.3
77 retinitis pigmentosa 78 12.3
78 retinitis pigmentosa 34 12.3
79 retinitis pigmentosa 32 12.3
80 retinitis pigmentosa, y-linked 12.3
81 retinitis pigmentosa 63 12.3
82 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 12.2
83 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 12.2
84 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 12.2
85 retinitis pigmentosa 85 12.1
86 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 12.1
87 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 12.1
88 nonsyndromic retinitis pigmentosa 12.1
89 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus 12.1
90 retinitis pigmentosa, deafness, mental retardation, and hypogonadism 12.1
91 cone-rod dystrophy 16 12.0
92 spastic quadriplegia, retinitis pigmentosa, and mental retardation 12.0
93 usher syndrome, type i 12.0
94 deafness, cataract, retinitis pigmentosa, and sperm abnormalities 12.0
95 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa 12.0
96 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa 12.0
97 microphthalmia, isolated 5 12.0
98 pallidal degeneration, progressive, with retinitis pigmentosa 11.9
99 retinitis pigmentosa inversa with deafness 11.9
100 microcephaly, retinitis pigmentosa, and sutural cataract 11.9
101 skeletal dysplasia, rhizomelic, with retinitis pigmentosa 11.9
102 dwarfism deafness retinitis pigmentosa 11.9
103 retinitis pigmentosa 2, x-linked 11.9
104 leber congenital amaurosis 13 11.9
105 leber congenital amaurosis 3 11.8
106 neuropathy, ataxia, and retinitis pigmentosa 11.8
107 leber congenital amaurosis 14 11.8
108 cone-rod dystrophy 7 11.7
109 cone-rod dystrophy 15 11.7
110 usher syndrome, type iia 11.6
111 flynn-aird syndrome 11.5
112 retinopathy, pericentral pigmentary, autosomal recessive 11.5
113 cone-rod dystrophy 6 11.5
114 cone-rod dystrophy 9 11.5
115 refsum disease, classic 11.5
116 usher syndrome, type ic 11.5
117 stromme syndrome 11.5
118 leber congenital amaurosis 15 11.4
119 retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness 11.4
120 short-rib thoracic dysplasia 7 with or without polydactyly 11.4
121 usher syndrome, type iid 11.4
122 ataxia with vitamin e deficiency 11.4
123 bardet-biedl syndrome 12 11.4
124 short-rib thoracic dysplasia 9 with or without polydactyly 11.3
125 short-rib thoracic dysplasia 1 with or without polydactyly 11.3
126 short-rib thoracic dysplasia 4 with or without polydactyly 11.3
127 short-rib thoracic dysplasia 5 with or without polydactyly 11.3
128 asphyxiating thoracic dystrophy 11.3
129 usher syndrome, type iiia 11.3
130 short-rib thoracic dysplasia 2 with or without polydactyly 11.3
131 short-rib thoracic dysplasia 10 with or without polydactyly 11.3
132 short-rib thoracic dysplasia 14 with polydactyly 11.3
133 short-rib thoracic dysplasia 16 with or without polydactyly 11.3
134 short-rib thoracic dysplasia 20 with polydactyly 11.3
135 cone-rod dystrophy 1 11.3
136 late-onset retinal degeneration 11.3
137 retinal dystrophy, juvenile cataracts, and short stature syndrome 11.3
138 trnt1 deficiency 11.3
139 joubert syndrome 1 11.3
140 abetalipoproteinemia 11.3
141 usher syndrome 11.3
142 macular dystrophy, patterned, 1 11.2
143 bardet-biedl syndrome 11.2
144 oguchi disease 11.2
145 bardet-biedl syndrome 2 11.2
146 bietti crystalline corneoretinal dystrophy 11.2
147 bardet-biedl syndrome 8 11.2
148 usher syndrome type 2 11.2
149 cone-rod dystrophy 3 11.2
150 crisponi/cold-induced sweating syndrome 3 11.2
151 primary ciliary dyskinesia 11.2
152 cranioectodermal dysplasia 1 11.2
153 usher syndrome, type id 11.2
154 usher syndrome, type ig 11.2
155 meckel syndrome, type 1 11.2
156 cranioectodermal dysplasia 2 11.2
157 short-rib thoracic dysplasia 13 with or without polydactyly 11.2
158 polycystic kidney disease 4 with or without polycystic liver disease 11.2
159 short-rib thoracic dysplasia 12 11.2
160 nephronophthisis 1 11.2
161 cranioectodermal dysplasia 4 11.2
162 joubert syndrome 21 11.2
163 bardet-biedl syndrome 16 11.2
164 joubert syndrome 24 11.2
165 joubert syndrome 33 11.2
166 usher syndrome, type iic 11.1
167 usher syndrome, type iiib 11.1
168 usher syndrome, type ij 11.1
169 usher syndrome, type iv 11.1
170 chromosome xp11.3 deletion syndrome 11.1
171 retinitis pigmentosa with or without skeletal anomalies 11.1
172 posterior column ataxia with retinitis pigmentosa 11.1
173 aldred syndrome 11.1
174 vitreoretinopathy, neovascular inflammatory 11.0
175 congenital disorder of glycosylation, type ia 11.0
176 peroxisome biogenesis disorder 1b 11.0
177 usher syndrome, type if 11.0
178 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 11.0
179 macular dystrophy, patterned, 3 11.0
180 short-rib thoracic dysplasia 6 with or without polydactyly 11.0
181 short-rib thoracic dysplasia 3 with or without polydactyly 11.0
182 short-rib thoracic dysplasia 8 with or without polydactyly 11.0
183 short-rib thoracic dysplasia 11 with or without polydactyly 11.0
184 short-rib thoracic dysplasia 15 with polydactyly 11.0
185 nephronophthisis 20 11.0
186 short-rib thoracic dysplasia 17 with or without polydactyly 11.0
187 short-rib thoracic dysplasia 18 with polydactyly 11.0
188 short-rib thoracic dysplasia 19 with or without polydactyly 11.0
189 bile acid synthesis defect, congenital, 4 11.0
190 hypoparathyroidism, sensorineural deafness, and renal disease 10.9
191 macular dystrophy, concentric annular 10.9
192 retinopathy, pericentral pigmentary, dominant 10.9
193 epiphyseal dysplasia, microcephaly, and nystagmus 10.9
194 laurence-moon syndrome 10.9
195 cone-rod dystrophy, x-linked, 3 10.9
196 cone-rod dystrophy, x-linked, 1 10.9
197 bardet-biedl syndrome 3 10.9
198 cone-rod dystrophy 5 10.9
199 cone-rod dystrophy 13 10.9
200 cone-rod dystrophy 10 10.9
201 cone-rod dystrophy 11 10.9
202 usher syndrome, type ih 10.9
203 cone-rod dystrophy 12 10.9
204 alpha-methylacyl-coa racemase deficiency 10.9
205 usher syndrome, type ik 10.9
206 cone-rod dystrophy 18 10.9
207 cone-rod dystrophy 19 10.9
208 bardet-biedl syndrome 4 10.9
209 bardet-biedl syndrome 7 10.9
210 cone-rod dystrophy 21 10.9
211 cone-rod dystrophy and hearing loss 1 10.9
212 charcot-marie-tooth disease type 7 10.9
213 cytomegalovirus retinitis 10.9
214 alezzandrini syndrome 10.9
215 biemond syndrome 10.9
216 refsum disease, infantile form 10.9
217 spastic paraplegia 10 10.9
218 weyers acrofacial dysostosis 10.8
219 acrocallosal syndrome 10.8
220 bardet-biedl syndrome 1 10.8
221 orofaciodigital syndrome i 10.8
222 meckel syndrome, type 8 10.8
223 cranioectodermal dysplasia 3 10.8
224 hydrolethalus syndrome 2 10.8
225 meckel syndrome, type 9 10.8
226 ciliary dyskinesia, primary, 19 10.8
227 ciliary dyskinesia, primary, 20 10.8
228 ciliary dyskinesia, primary, 21 10.8
229 bardet-biedl syndrome 5 10.8
230 bardet-biedl syndrome 13 10.8
231 bardet-biedl syndrome 14 10.8
232 bardet-biedl syndrome 17 10.8
233 bardet-biedl syndrome 18 10.8
234 bardet-biedl syndrome 19 10.8
235 joubert syndrome 25 10.8
236 joubert syndrome 26 10.8
237 bardet-biedl syndrome 20 10.8
238 bardet-biedl syndrome 21 10.8
239 autosomal dominant polycystic kidney disease 10.8
240 macular retinal edema 10.6
241 macular dystrophy, dominant cystoid 10.5
242 melioidosis 10.5
243 cataract 10.4
244 leber congenital amaurosis 10.3
245 macular degeneration, age-related, 1 10.3
246 stargardt disease 10.3
247 bardet-biedl syndrome 10 10.2
248 bardet-biedl syndrome 11 10.2
249 posterior column ataxia 10.2
250 retinal detachment 10.2
251 choroideremia 10.2
252 uveitis 10.2
253 fundus albipunctatus 10.2
254 macular holes 10.2
255 microvascular complications of diabetes 5 10.2
256 myopia 10.2
257 kidney disease 10.1
258 night blindness 10.1
259 optic disk drusen 10.1
260 polydactyly 10.0
261 retinitis pigmentosa 80 10.0
262 retinal degeneration 10.0
263 polycystic kidney disease 10.0
264 nephronophthisis 10.0
265 hypopituitarism 10.0
266 salla disease 10.0
267 retinal disease 10.0
268 fuchs' heterochromic uveitis 10.0
269 retinitis pigmentosa 10.0
270 leber congenital amaurosis 4 10.0
271 meckel syndrome, type 3 10.0
272 joubert syndrome 6 10.0
273 retinitis 10.0
274 growth hormone deficiency 10.0
275 ataxia and polyneuropathy, adult-onset 10.0
276 neuropathy 10.0
277 senior-loken syndrome 1 10.0
278 retinitis pigmentosa-deafness syndrome 10.0
279 joubert syndrome 17 10.0
280 orofaciodigital syndrome 10.0
281 fundus dystrophy 10.0
282 schizophrenia 10.0
283 coats disease 10.0
284 microvascular complications of diabetes 1 10.0
285 mevalonic aciduria 10.0
286 microvascular complications of diabetes 2 10.0
287 isolated ectopia lentis 10.0
288 epilepsy 10.0
289 hypogonadism 10.0
290 hypogonadotropism 10.0
291 depression 10.0
292 coloboma of macula 9.9
293 stargardt disease 1 9.9
294 muscular dystrophy, duchenne type 9.9
295 ichthyosis prematurity syndrome 9.9
296 nanophthalmos 2 9.9
297 mucopolysaccharidosis-plus syndrome 9.9
298 alopecia 9.9
299 chronic granulomatous disease 9.9
300 diabetes mellitus 9.9
301 congenital stationary night blindness 9.9
302 sensorineural hearing loss 9.9
303 blepharophimosis 9.9
304 microphthalmia 9.9
305 interstitial nephritis 9.9
306 dementia 9.9
307 retinal vascular disease 9.9
308 muscular dystrophy 9.9
309 xp22.3 microdeletion syndrome 9.9
310 hypoxia 9.9
311 nephronophthisis 13 9.9
312 renal-hepatic-pancreatic dysplasia 2 9.9
313 senior-loken syndrome 8 9.9
314 hydrocephalus 9.9
315 heart disease 9.9
316 situs inversus 9.9
317 microcephaly 9.9
318 congenital hydrocephalus 9.9
319 cone-rod dystrophy 2 9.8
320 mitochondrial complex v deficiency, mitochondrial type 1 9.8
321 polyglucosan body myopathy 1 with or without immunodeficiency 9.8
322 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
323 pathologic nystagmus 9.8
324 bowenoid papulosis 9.8
325 atrial standstill 1 9.8
326 hypercarotenemia and vitamin a deficiency, autosomal dominant 9.8
327 glaucoma, primary open angle 9.8
328 noonan syndrome 1 9.8
329 trichomegaly 9.8
330 neurodegeneration with brain iron accumulation 1 9.8
331 myoclonic epilepsy of lafora 9.8
332 myoclonic epilepsy of unverricht and lundborg 9.8
333 oguchi disease 1 9.8
334 gyrate atrophy of choroid and retina 9.8
335 pseudoxanthoma elasticum 9.8
336 enhanced s-cone syndrome 9.8
337 oliver-mcfarlane syndrome 9.8
338 vitamin e, familial isolated deficiency of 9.8
339 aceruloplasminemia 9.8
340 leber congenital amaurosis 5 9.8
341 leber congenital amaurosis 8 9.8
342 alacrima, achalasia, and mental retardation syndrome 9.8
343 hypobetalipoproteinemia, familial, 1 9.8
344 achromatopsia 9.8
345 ichthyosis lamellar 1 9.8
346 brachydactyly 9.8
347 autosomal recessive disease 9.8
348 autosomal recessive non-syndromic intellectual disability 9.8
349 fanconi syndrome 9.8
350 open-angle glaucoma 9.8
351 keratomalacia 9.8
352 optic neuritis 9.8
353 intermediate uveitis 9.8
354 acute closed-angle glaucoma 9.8
355 polyneuropathy 9.8
356 primary angle-closure glaucoma 9.8
357 neuronal ceroid lipofuscinosis 9.8
358 disease of mental health 9.8
359 ichthyosis 9.8
360 neuritis 9.8
361 acromegaly 9.8
362 phimosis 9.8
363 early myoclonic encephalopathy 9.8
364 neuromuscular disease 9.8
365 alopecia areata 9.8
366 progressive myoclonus epilepsy, lafora type 9.8
367 central serous chorioretinopathy 9.8
368 charles bonnet syndrome 9.8
369 degos 'en cocarde' erythrokeratoderma 9.8
370 goldmann-favre syndrome 9.8
371 myotonia atrophica 9.8
372 pseudo-turner syndrome 9.8
373 trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina 9.8
374 achondroplasia 9.7
375 aortic valve disease 1 9.7
376 cat eye syndrome 9.7
377 birt-hogg-dube syndrome 9.7
378 huntington disease 9.7
379 hypertelorism 9.7
380 polydactyly, postaxial, type a1 9.7
381 premature chromatid separation trait 9.7
382 neural tube defects 9.7
383 thanatophoric dysplasia, type i 9.7
384 renal hypodysplasia/aplasia 1 9.7
385 alstrom syndrome 9.7
386 microcephalic osteodysplastic primordial dwarfism, type i 9.7
387 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.7
388 hypoplastic left heart syndrome 1 9.7
389 mosaic variegated aneuploidy syndrome 1 9.7
390 isolated growth hormone deficiency, type ia 9.7
391 sjogren-larsson syndrome 9.7
392 incontinentia pigmenti 9.7
393 caroli disease, isolated 9.7
394 neural tube defects, folate-sensitive 9.7
395 yemenite deaf-blind hypopigmentation syndrome 9.7
396 nephronophthisis 2 9.7
397 spondylometaphyseal dysplasia, axial 9.7
398 nephronophthisis 3 9.7
399 ataxia-telangiectasia-like disorder 1 9.7
400 bardet-biedl syndrome 6 9.7
401 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 9.7
402 nephronophthisis 7 9.7
403 meckel syndrome, type 6 9.7
404 joubert syndrome 9 9.7
405 senior-loken syndrome 7 9.7
406 nephronophthisis 12 9.7
407 nephronophthisis 9 9.7
408 joubert syndrome 16 9.7
409 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 9.7
410 nephronophthisis 14 9.7
411 nephronophthisis 15 9.7
412 ciliary dyskinesia, primary, 26 9.7
413 ciliary dyskinesia, primary, 27 9.7
414 orofaciodigital syndrome xiv 9.7
415 cone-rod dystrophy 20 9.7
416 nephronophthisis 19 9.7
417 meckel syndrome 12 9.7
418 roifman syndrome 9.7
419 joubert syndrome 27 9.7
420 joubert syndrome 28 9.7
421 sclerosing cholangitis, neonatal 9.7
422 meckel syndrome 13 9.7
423 orofaciodigital syndrome xvi 9.7
424 joubert syndrome 30 9.7
425 joubert syndrome 31 9.7
426 orofaciodigital syndrome xvii 9.7
427 craniosynostosis 9.7
428 hypoplastic left heart syndrome 9.7
429 osteoarthritis 9.7
430 polycystic ovary syndrome 9.7
431 caroli disease 9.7
432 cholestasis 9.7
433 atrial heart septal defect 9.7
434 cystic kidney disease 9.7
435 kallmann syndrome 9.7
436 infertility 9.7
437 dwarfism 9.7
438 renal dysplasia diffuse cystic 9.7
439 renal dysplasia 9.7
440 neurofibromatosis, type ii 9.7
441 radin blood group antigen 9.7
442 seizures, benign familial neonatal, 1 9.7
443 creutzfeldt-jakob disease 9.7
444 darier-white disease 9.7
445 diabetes mellitus, noninsulin-dependent 9.7
446 factor viii deficiency 9.7
447 zimmermann-laband syndrome 1 9.7
448 frasier syndrome 9.7
449 hemifacial atrophy, progressive 9.7
450 hypertriglyceridemia, familial 9.7
451 macular dystrophy, vitelliform, 2 9.7
452 marfan syndrome 9.7
453 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 9.7
454 neurofibromatosis, type i 9.7
455 neurofibromatosis, type iv, of riccardi 9.7
456 optic nerve hypoplasia, bilateral 9.7
457 pigmented paravenous chorioretinal atrophy 9.7
458 peutz-jeghers syndrome 9.7
459 porphyria cutanea tarda 9.7
460 exfoliation syndrome 9.7
461 pulmonary hemosiderosis 9.7
462 retinal cone dystrophy 1 9.7
463 rheumatoid arthritis 9.7
464 split-hand/foot malformation 1 9.7
465 spondyloepimetaphyseal dysplasia, strudwick type 9.7
466 odontochondrodysplasia 9.7
467 strabismus 9.7
468 sturge-weber syndrome 9.7
469 vitreoretinochoroidopathy 9.7
470 leber congenital amaurosis 2 9.7
471 celiac disease 1 9.7
472 premature centromere division 9.7
473 cerebellar hypoplasia 9.7
474 cohen syndrome 9.7
475 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.7
476 macular dystrophy, corneal 9.7
477 cystic fibrosis 9.7
478 cystinuria 9.7
479 mckusick-kaufman syndrome 9.7
480 vici syndrome 9.7
481 cholestasis, benign recurrent intrahepatic, 1 9.7
482 miller-dieker lissencephaly syndrome 9.7
483 mucopolysaccharidosis, type iiic 9.7
484 leigh syndrome 9.7
485 3-methylglutaconic aciduria, type iii 9.7
486 sjogren syndrome 9.7
487 werner syndrome 9.7
488 mcleod syndrome 9.7
489 hemophilia a 9.7
490 mucopolysaccharidosis, type ii 9.7
491 retinoschisis 1, x-linked, juvenile 9.7
492 aging 9.7
493 hyperinsulinemic hypoglycemia, familial, 2 9.7
494 hyperinsulinemic hypoglycemia, familial, 3 9.7
495 focal segmental glomerulosclerosis 1 9.7
496 mitochondrial complex v deficiency, nuclear type 1 9.7
497 pars planitis 9.7
498 vitiligo-associated multiple autoimmune disease susceptibility 1 9.7
499 body mass index quantitative trait locus 1 9.7
500 senior-loken syndrome 4 9.7
501 anxiety 9.7
502 macular dystrophy, vitelliform, 3 9.7
503 major depressive disorder 9.7
504 ciliary dyskinesia, primary, 5 9.7
505 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 9.7
506 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 9.7
507 hyperinsulinemic hypoglycemia, familial, 5 9.7
508 hyperinsulinemic hypoglycemia, familial, 4 9.7
509 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 9.7
510 diabetes mellitus, ketosis-prone 9.7
511 choroidal dystrophy, central areolar 2 9.7
512 occult macular dystrophy 9.7
513 leber congenital amaurosis 11 9.7
514 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 9.7
515 macular dystrophy, vitelliform, 5 9.7
516 retinal dystrophy with or without macular staphyloma 9.7
517 helix syndrome 9.7
518 west syndrome 9.7
519 alport syndrome 9.7
520 arthritis 9.7
521 common variable immunodeficiency 9.7
522 ectodermal dysplasia 9.7
523 focal segmental glomerulosclerosis 9.7
524 glomerulonephritis 9.7
525 hemangioma 9.7
526 hematopoietic stem cell transplantation 9.7
527 keratoconus 9.7
528 leukemia 9.7
529 mucopolysaccharidosis iii 9.7
530 retinal vein occlusion 9.7
531 thalassemia 9.7
532 aniseikonia 9.7
533 lissencephaly 9.7
534 weill-marchesani syndrome 9.7
535 posterior polar cataract 9.7
536 nonsyndromic deafness 9.7
537 small cell carcinoma 9.7
538 autosomal dominant disease 9.7
539 hypogonadotropic hypogonadism 9.7
540 neuroretinitis 9.7
541 brown's tendon sheath syndrome 9.7
542 suppression amblyopia 9.7
543 amblyopia 9.7
544 steatorrhea 9.7
545 spastic quadriplegia 9.7
546 lens subluxation 9.7
547 alternating exotropia 9.7
548 exotropia 9.7
549 autonomic neuropathy 9.7
550 hypertensive retinopathy 9.7
551 lyme disease 9.7
552 vitreous syneresis 9.7
553 hemosiderosis 9.7
554 chronic progressive external ophthalmoplegia 9.7
555 ocular motility disease 9.7
556 quadriplegia 9.7
557 branch retinal artery occlusion 9.7
558 porphyria 9.7
559 hyperinsulinemic hypoglycemia 9.7
560 congenital toxoplasmosis 9.7
561 hypophosphatasia 9.7
562 scleromalacia perforans 9.7
563 chronic closed-angle glaucoma 9.7
564 foster-kennedy syndrome 9.7
565 hypothyroidism 9.7
566 papilledema 9.7
567 keratosis 9.7
568 retinal vascular occlusion 9.7
569 facial hemiatrophy 9.7
570 optic nerve disease 9.7
571 melanoma 9.7
572 gaucher's disease 9.7
573 hyperinsulinism 9.7
574 central retinal vein occlusion 9.7
575 corneal dystrophy 9.7
576 agammaglobulinemia 9.7
577 cutis laxa 9.7
578 central nervous system disease 9.7
579 turner syndrome 9.7
580 pseudohypoparathyroidism 9.7
581 myopathy 9.7
582 pituitary gland disease 9.7
583 aortic valve insufficiency 9.7
584 peripheral nervous system disease 9.7
585 panic disorder 9.7
586 leber hereditary optic neuropathy 9.7
587 muscular atrophy 9.7
588 retinal artery occlusion 9.7
589 nervous system disease 9.7
590 vasculitis 9.7
591 rubella 9.7
592 lupus erythematosus 9.7
593 amyloidosis 9.7
594 ocular hypertension 9.7
595 cleft lip 9.7
596 mechanical strabismus 9.7
597 iridocyclitis 9.7
598 bronchiectasis 9.7
599 dextrocardia 9.7
600 vitreous detachment 9.7
601 refractive error 9.7
602 toxoplasmosis 9.7
603 hypoglycemia 9.7
604 albinism 9.7
605 hemophilia 9.7
606 myotonic dystrophy 9.7
607 congenital hepatic fibrosis 9.7
608 familial porphyria cutanea tarda 9.7
609 sickle cell disease 9.7
610 x-linked congenital stationary night blindness 9.7
611 anterior uveitis 9.7
612 carcinoid syndrome 9.7
613 cerebellar degeneration 9.7
614 cutis verticis gyrata 9.7
615 cytokine deficiency 9.7
616 deafness enamel hypoplasia nail defects 9.7
617 glioma 9.7
618 heparin-induced thrombocytopenia 9.7
619 hypoaldosteronism 9.7
620 motor neuro-ophthalmic disorders 9.7
621 myoclonus epilepsy 9.7
622 optic pathway glioma 9.7
623 rud syndrome 9.7
624 weber syndrome 9.7
625 color vision deficiency 9.7
626 mucopolysaccharidoses 9.7
627 myoclonus 9.7
628 myotonia 9.7
629 dysautonomia 9.7
630 cleft lip/palate 9.7
631 rapidly involuting congenital hemangioma 9.7
632 isolated split hand-split foot malformation 9.7
633 nevus of ota 9.7
634 zimmermann-laband syndrome 9.7
635 optic disc pit 9.7
636 discoid lupus erythematosus 9.7
637 juvenile nephronophthisis 9.7
638 essential iris atrophy 9.7

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



Diseases related to Rhyns Syndrome

Symptoms & Phenotypes for Rhyns Syndrome

Human phenotypes related to Rhyns Syndrome:

60 33 (showing 27, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
2 rod-cone dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000510
3 abnormality of the liver 60 33 hallmark (90%) Very frequent (99-80%) HP:0001392
4 nephronophthisis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000090
5 hypopituitarism 60 33 hallmark (90%) Very frequent (99-80%) HP:0040075
6 osteopenia 60 33 frequent (33%) Frequent (79-30%) HP:0000938
7 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
8 skeletal dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0002652
9 delayed skeletal maturation 60 33 frequent (33%) Frequent (79-30%) HP:0002750
10 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
11 multicystic kidney dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000003
12 abnormality of body height 60 33 frequent (33%) Frequent (79-30%) HP:0000002
13 hypoplastic ilia 60 33 frequent (33%) Frequent (79-30%) HP:0000946
14 abnormality of the acetabulum 60 33 frequent (33%) Frequent (79-30%) HP:0003170
15 cranial nerve vi palsy 60 33 frequent (33%) Frequent (79-30%) HP:0006897
16 small epiphyses 60 33 frequent (33%) Frequent (79-30%) HP:0010585
17 cranial nerve paralysis 60 Frequent (79-30%)
18 abnormality of the skeletal system 60 Very frequent (99-80%)
19 conductive hearing impairment 33 HP:0000405
20 brachydactyly 33 HP:0001156
21 chronic kidney disease 33 HP:0012622
22 pituitary hypothyroidism 33 HP:0008245
23 radial bowing 33 HP:0002986
24 exotropia 33 HP:0000577
25 growth hormone deficiency 33 HP:0000824
26 abnormality of long bone morphology 60 Frequent (79-30%)
27 short femoral neck 33 HP:0100864

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
exotropia
retinitis pigmentosa
extinguished electroretinogram responses bilaterally

Skeletal Hands:
brachydactyly
thinning of diaphyseal cortex

Endocrine Features:
growth hormone deficiency
hypopituitarism
thyroid stimulating hormone deficiency

Skeletal:
delayed bone age
generalized osteopenia

Skeletal Pelvis:
hypoplastic iliac bones
irregular acetabular margins

Skeletal Spine:
rotoscoliosis

Growth Height:
short stature

Genitourinary Kidneys:
nephronophthisis
renal failure, progressive

Skeletal Limbs:
short femoral neck
bowed radii
epiphyseal hypoplasia
thin tubular bones
shortened long bones
more
Skeletal Skull:
thickened calvarium

Head And Neck Ears:
sensorineural deafness, unilateral severe

Neurologic Central Nervous System:
congenital palsy of right cranial nerve iii
congenital palsy of right cranial nerve iv
congenital palsy of left cranial nerve vi

Clinical features from OMIM:

602152

Drugs & Therapeutics for Rhyns Syndrome

Search Clinical Trials , NIH Clinical Center for Rhyns Syndrome

Cochrane evidence based reviews: ciliopathies

Genetic Tests for Rhyns Syndrome

Anatomical Context for Rhyns Syndrome

MalaCards organs/tissues related to Rhyns Syndrome:

42
Kidney, Bone, Heart, Eye, Pituitary, Cortex, Retina

Publications for Rhyns Syndrome

Articles related to Rhyns Syndrome:

(showing 6, show less)
# Title Authors Year
1
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. ( 29891882 )
2018
2
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. ( 26275418 )
2015
3
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). ( 19508969 )
2009
4
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. ( 17377820 )
2007
5
Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndrome. ( 11391657 )
2001
6
Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome? ( 9375913 )
1997

Variations for Rhyns Syndrome

ClinVar genetic disease variations for Rhyns Syndrome:

6 (showing 10, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh37 Chromosome 8, 94777845: 94777845
2 IFT81 NM_014055.3(IFT81): c.2015_2019delACCGG (p.Asp672Alafs) deletion Uncertain significance rs864309658 GRCh38 Chromosome 12, 110218210: 110218214
3 IFT81 NM_014055.3(IFT81): c.2015_2019delACCGG (p.Asp672Alafs) deletion Uncertain significance rs864309658 GRCh37 Chromosome 12, 110656015: 110656019
4 IFT81 NM_014055.3(IFT81): c.1188+1G> A single nucleotide variant Uncertain significance rs864309657 GRCh37 Chromosome 12, 110600871: 110600871
5 IFT81 NM_014055.3(IFT81): c.1188+1G> A single nucleotide variant Uncertain significance rs864309657 GRCh38 Chromosome 12, 110163066: 110163066
6 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh38 Chromosome 8, 93765617: 93765617
7 TMEM67 NM_001142301.1(TMEM67): c.1046A> G (p.Asp349Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 94798451: 94798451
8 TMEM67 NM_001142301.1(TMEM67): c.1046A> G (p.Asp349Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 93786223: 93786223
9 NEK4 NM_003157.5(NEK4): c.2017dup (p.Ile673Asnfs) duplication Likely pathogenic rs770418305 GRCh38 Chromosome 3, 52741487: 52741487
10 NEK4 NM_003157.5(NEK4): c.2017dup (p.Ile673Asnfs) duplication Likely pathogenic rs770418305 GRCh37 Chromosome 3, 52775503: 52775503

Expression for Rhyns Syndrome

Search GEO for disease gene expression data for Rhyns Syndrome.

Pathways for Rhyns Syndrome

GO Terms for Rhyns Syndrome

Sources for Rhyns Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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