The HNRNP-RNDDs are distinct disorders with overlapping clinical traits.
We are an umbrella organization to cover all of the HNRNP-RNDDs. As they have similar mechanisms of disease, it is likely that there are shared therapeutic strategies to uncover.
Fast Facts
At least
~1 in 22,620 individuals have an
HNRNP-RNDD
There are at least 10 HNRNP-RNDDs, and that number is growing
Individually, each HNRNP-RNDD is ultra rare but together they overcome their ultra rare status
Rare Disease: a disease that is diagnosed in less than 200,000 individuals in the US, or less than
1 in 1000 individuals
Ultra-rare Disease: a disease that is diagnosed in less than 1 in 50,000 individuals
The HNRNP-RNDDs
95%
have developmental delay/
intellectual disability
71%
have speech and language delay and/or difficulties
57%
have seizures
55%
have motor skills delay
60%
have behavioral differences, including autism spectrum disorder, ADHD, and anxiety
40%
have differences in brain structure
59%
have hypotonia
36%
have skeletal differences such as scoliosis and hand/feet anomalies
44%
have vision and/or eye problems
65%
have distinct facial features, although they vary by HNRNP-RNDD
This data is from Gillentine et al., 2021 and the continuation of that study
Individual HNRNP-RNDDs
The HNRNP-RNDDs are related but distinct disorders. We have color coded them by which are more related to each other.
Heres what we know is different
HNRNPC-RNDD
HNRNPC-RNDD is one of the newest HNRNP-RNDDs described.
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Most individuals with HNRNPC-RNDD have a happy demeanor
HNRNPD-RNDD
HNRNPD-RNDD has only been described in one paper.
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Speech is particularly affected
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Behavioral differences such as autism spectrum disorder are common
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Differences in movement (ataxia, poor coodination, dystonia) have been observed
HNRNPG-RNDD
hnRNPG variants result in Shashi-related intellectual disability, which has only been described in a few families. The disorder is X-linked and only affects males (who have one copy of the X chromosome).
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Many have short stature
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Hearing is often affected
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There are shared differences in facial features
HNRNPH1-RNDD
HNRNPH1-RNDD has multiple papers published on it.
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Growth delay is common
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Speech is particularly affected
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MRI abnormalities are common
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Vision and eye issues are common
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Differences in facial features are common
HNRNPH2-RNDD
HNRNPH2-RNDD is also known as Bain-type intellectual disability. Mostly girls are affected, but a small number of boys have been reported.
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Many individuals have genetic variants that impact the same part of the protein
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Growth delay is observed in many individuals
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Speech and motor skills are significantly affected
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Behavioral differences are common, including autism spectrum disorder, anxiety, and hyperacusis
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Vision issues are common
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There are consistent facial features
HNRNPK-RNDD
Variants in HNRNPK cause Au-Kline Syndrome.
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There are distinct facial features observed in many individuals with Au-Kline Syndrome.
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Skeletal differences, including scoliosis, are common
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~20% of cases have craniosynostosis
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Congenital hip dysplasia is common
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Many individuals have heart issues
HNRNPR-RNDD
HNRNPR-RNDD has been in two publications.
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Many individuals have growth delay
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Many have behavioral differences, such as autism spectrum disorder and attention deficit hyperactivity disorder
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Skeletal differences have been reported, such as scoliosis or hand and feet differences such as clinodactyly
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There are not specific facial features, but many individual have differences in ear structure, and microcephaly is common
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Cardiac issues are reported in half of cases
HNRNPQ-RNDD
HNRNPQ/SYNCRIP-RNDD has been in multiple publications.
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Most individuals have speech and/or language delay, and many are nonverbal
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Behavioral differences such as autism spectrum disorder are common
HNRNPU-RNDD
HNRNPU-RNDD is fairly well characterized, with several publications.
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Seizures are reported in almost all cases
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Speech and language delay is common
HNRNPUL2-RNDD
HNRNPUL2-RNDD has only one publication.
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Growth delay is common
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Both speech and motor skills are delayed
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Behavioral differences such as autism spectrum disorder and ADHD are common